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SICKLE CELL DISEASE
Dr JD KABAMBA
Learning Objectives
At the end of this lecture, the student will be able to:
1. Understand the epidemiology of SCD
2. Define SCD and SCA
3. Determine the cause of SCD
4. Understand the pathophysiology of SCD
5. Elicit clinical manifestations and complications
6. Institute management
Definition
Sickle Cell Disease (SCD) denotes all genotypes containing at least one sickle gene
in which HbS makes up at least half the haemoglobin present.
It is an autosomal recessive genetic disorder
Sickle cell anemia is the most common form of cases of SCD in patients of African
ethnicity.
In addition to Sickle Cell Anaemia (HbSS) there are four other compound
heterozygous conditions which can occur :
• Haemoglobin SC
• Haemoglobin S/DPunjab
• Haemoglobin S/ß thalassaemia
• Haemoglobin S/OArab
• The most common severe syndrome is homozygous sickle cell anaemia (Hb SS)
• The co-inheritance of α-thalassaemia or raised Hb F production with Hb SS results
in a milder clinical course
“Sickle Cell Disease is a genetic condition characterized by the
inheritance of 2 abnormal genes coding for haemoglobin with one of
them coding for Hb S” C.Chintu

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1) Hemoglobinopathies are inherited disorders affecting hemoglobin structure or production, ranging from asymptomatic to fatal. The most common types are sickle cell disease and thalassemias. 2) Thalassemias are caused by deficient production of globin chains, leading to imbalanced globin synthesis and red blood cell damage. Beta thalassemias result from low beta chain production while alpha thalassemias involve alpha chains. 3) Clinical features vary by specific disorder from mild anemia to transfusion-dependent anemia and organ damage. Management involves treatment of complications, transfusions, chelation therapy, and in severe cases, stem cell transplant.

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Epidemiology
 4.4 million people have sickle cell disease worldwide, whilst about 43 million are
living with sickle cell trait
 About 80% of sickle cell disease cases occur in sub-Saharan Africa
 The mortality rate for children <5 years of age ranges from 50% to 80%
 The high burden of the disease is further exacerbated due to lack of access to
comprehensive healthcare in the region
 The incidence of sickle cell trait ranges from 20% to 30% in Cameroon, the
Democratic Republic of the Congo, Gabon, Ghana, and Nigeria.
 90% of the world’s sickle cell disease population lives in Nigeria, India, and the
Democratic Republic of the Congo, where the disease affects up to 2% of the
population.
 Nigeria has the largest population of persons affected with sickle cell disease
globally.
 In Zambia, the sickle cell trait is carried by 20-25% of the population and 1-2% of
babies born with the disease.
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Sickle cell anemia is a hereditary blood disorder characterized by abnormal hemoglobin in red blood cells that causes them to take on a sickle shape. This leads to blockages in blood vessels and severe complications including pain crises, infections, stroke, and increased mortality. It occurs when a person inherits two copies of the abnormal hemoglobin gene, and those with one copy have sickle cell trait without symptoms. Repeated sickling damages red blood cells, causing rigidity and blockages in small vessels. Diagnosis involves hemoglobin testing and electrophoresis, and treatment focuses on folic acid, antibiotics, hydroxyurea, transfusions, and bone marrow transplants to manage complications.

Pathophysiology
• SCd is caused by a genetic
abnormality called a point mutation
• It is characterized by a single
nucleotide substitution in the 6th
codon of the ß globin gene results in
the substitution of glutamic acid (A)
for valine (T)on the surface of the
variant ß-globin chain.
• This change allows HbS to polymerise
when deoxygenated, the primary
event in all sickle cell pathology
• This mutation alters the haemoglobin
resulting in Hb S which is insoluble
and forms crystals when exposed to
low oxygen tension
• When deoxygenation (decreased O2 tension) occurs, the Hb molecule undergoes
rearrangement secondary to the amino acid substitution.
• The RBC becomes elongated, rigid, and curved on the ends, resembling a sickle
shape.
• Abnormalities within the red blood cells include:
- Abnormal hemoglobin (HbS)
- Decreased intracellular potassium ,
- Abnormal phosphorylation in cellular membrane leading to dehydration within
the cell and increased membrane calcium levels, leaving the cell in an irreversible
sickle shape.
The red cells containing this denatured fibrous haemoglobin experience membrane
damage and form sickle shapes, and may block different areas of the
microcirculation or large vessels, causing damage (infarcts) of various organs.
Topic: SICKLE CELL DISEASE IN CHILDREN-3.pdf
Clinical Features
The disease does not present clinically until 6 months
after birth as the HbF wanes and HbS fully expressing
itself.
Early clinical features are as a result of hyperhemolysis
and increased erythropoesis:
1. Skull bones bossing as a result of extramedullary
illustrated by hair-on-end picture on X-ray.
2. Recurrent jaundice ( usually mild) due to haemolysis
3. Anaemia: 6-8g/dl
4. Splenomegaly ( in infancy)/ Hypersplenism
5. Failure to thrive

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SCD events
1. Steady state:
This is defined as that period when
there is no recent drop in the
hemoglobin level and there is absence
of infection, pain, acute complicating
factors or acute clinical symptoms or
crisis for at least 3 months established
by a careful history and complete
physical examination.
SCD events
2. Vaso-occlusive crisis
• The cause of vaso-occlusive crisis (VOC) is
believed to be ischemic tissue injury from the
obstruction of blood flow by sickled
erythrocytes. Reduced blood flow causes
hypoxia and acidosis that eventually leads to
ischemic tissue injury.
• Infection, fever, acidosis, hypoxia,
dehydration, sleep apnea, and exposure to
extremes of heat and cold can precipitate
crises. Often, no cause is identified.
 Treat the precipitant if known.
 Administer a potent analgesia following the
WHO ladder of pain management and
intravenous fluids.
 Indications for transfusing the patient are: if
pain is severe; involves the whole body;
priapism; acute chest syndrome; stroke;
splenic of hepatic sequestration
SCD events
3. Hyper-haemolytic crisis
Significant change in blood picture
characterised by a rapid fall in the haemoglobin
level associated with jaundice, marked
reticulocytosis, and polychromasia on the blood
smear, increased unconjugated
hyperbilirubinaemia, and increased
urobilinogen content in urine above the steady
state level for each individual patient.
SCD events
4. Splenic sequestration
 Caused by RBCs trapped in the splenic
circulation leading to a rapid decrease in Hb
level, reticulocytosis ,rapid enlargement of
the spleen and signs of acute circulatory
collapse.
 It is a life threatening event and a medical
emergency!
 It is common in children younger than 2
years.
Immediate treatment includes :
 Shock treatment and blood transfusion as
patient may present in shock with severe
anemia.
 Recurrence is about 50% splenectomy is
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Sickle cell disorder is an inherited blood disorder caused by a mutation in the beta globin chain of hemoglobin. This mutation causes red blood cells to become rigid and sickle-shaped, leading to blockages in blood vessels. Sickle cell disorder results in painful sickle cell crises, anemia, infections, and damage to organs over time. Treatment focuses on managing pain, preventing infections, addressing complications, and transfusion in severe cases. With prophylactic antibiotics and care, average life expectancy for sickle cell patients has increased in recent decades.

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SCD events
5. Aplastic crisis
 Aplastic crisis occurs when red cell production
is temporarily (7-10 days) reduced while the
ongoing hemolytic process continues,
resulting in severe anaemia.
 The total WBC or platelet counts may or may
not be affected. In addition, there is no
significant increase in the unconjugated
fraction of serum bilirubin.
 The condition is characterized by a rapid fall
in haemoglobin and the reticulocyte from a
direct effect of parvovirus B19 or (rarely)
other infectious agents on erythroid
progenitors in the marrow.
Treatment :
 Blood transfusion and isolation of the patient.
After 7–10 days, patients develop an antibody
response resulting in viral neutralization and
resumption of “normal” marrow erythroid
activity.
Complications
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Meningitis Urinarytractinfection
Stroke Hyposthenuria
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Musculoskeletalsystem Priapism
Vaso-occlusivecrisis
Arthritis Gastroentestinal
Osteomyelitis
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Cholecystitis
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Sickle cell anemia is a genetic disorder whereby red blood cells are abnormally shaped, causing problems with the flow of blood through the body as well as transport of oxygen throughout the body inheritance is Autosomal because its a blood disorder and systemic disorder its caused by mutation on B-chain of the globulin chain , where red blood cells (RBCs) become sickle/crescent shaped Cells get destroyed in narrowed thin blood capillaries , RE system and cause anaemia Blockage in thin layers body

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This document discusses various hemoglobinopathies that are prevalent in India. It begins by describing normal hemoglobin and its subunits. It then classifies different types of hemoglobinopathies including structural abnormalities like sickle cell disease, thalassemias due to defective globin chain synthesis, and acquired hemoglobinopathies. Sickle cell disease results from a genetic mutation causing hemoglobin S polymerization and red blood cell sickling. Thalassemias involve reduced alpha or beta globin chain production. The document provides detailed information on the genetics, pathophysiology, clinical manifestations, diagnosis, and management of these common hemoglobin disorders.

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Diagnosis
Screening of SCD can be done using the following tests:
• Sickling/Solubility test
• Sickle-Scan
Confirmation of SCD and Newborn screening for SCD
can be done using
• Haemoglobin (Hb) electrophoresis
• Iso-electric Focusing (IEF)
• High performance liquid chromatography (HPLC)
Other supporting tests (Which can serve as baseline
tests and follow up tests include)
• Complete/Full blood count [CBD/FBC]
Liver function tests (LFTs)
• Kidney/Renal function tests (RFTs)
• And others on per patient basis
FBC:
The haemoglobin is usually 6–9 g/dL
Sickle cells and target cells occur in the blood
Howell–Jolly bodies (Features of splenic atrophy)
RDW-CV > 15% (11-15%)
Normal or increased MCV (80-100 fl)
Increased reticulocyte count ( > 3%)
Sickling Scan Iso-Electric Focusing
Hb Solubility Test
In the presence of Sodium Dithionite, Hb S
precipitates causing turbidity of the reaction
mixture. Under the same conditions, Hb A, as
well as most other hemoglobins, are soluble.
Reactive - If any sickling hemoglobin is present,
the solution will be sufficiently turbid to prevent
reading the Line Scale through the test tube.
Nonreactive - If a sickling hemoglobin is not
present, the solution will be clear enough to
allow the Line Scale to be seen through the test
tube.

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1. Sickle-cell anemia is a genetic blood disorder caused by a mutation in the hemoglobin gene, resulting in rigid, sickle-shaped red blood cells and chronic hemolysis. It is characterized by severe pain crises, anemia, and life expectancy is shortened. 2. Complications include organ damage from blocked blood flow, infections due to spleen dysfunction, stroke, and bone/joint problems. Painful vaso-occlusive crises are the most common acute symptom. 3. Management involves folic acid, antibiotics, pain medications, blood transfusions, and hydroxyurea. The heterozygous form known as sickle cell trait does not cause symptoms.

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Electrophoresis is a separation
technique used in clinical and research
laboratories for the purpose of
separating molecules according to their
size and electrical charge in a fluid or gel
under the influence of an electric field.
Haemoglobin Electrophoresis
HbA is the most positively charged among
the normal adult hemoglobin types and
moves the farthest toward the cathode.
HbF has a slightly lower positive charge
than HbA.
HbA2 is the most negatively charged and
moves only very slightly away from the
anode.
SCD Diagnosis
Hb Electrophoresis HPLC
Management
General Treatment
• Prophylactic – avoid those factors known to precipitate crises, especially
dehydration, anoxia (e.g. high altitudes), infections, stasis of the circulation
and cooling of the skin surface
• Folic acid
• Good general nutrition and hygiene
• PCV, Hib and meningococcal vaccination and regular oral penicillin are
effective at reducing the infection rate with these organisms
• Hepatitis B vaccination should also be given, as transfusions may be
needed and
• Malarial prophylaxis is required in countries where malaria is prevalent

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Specific Treatment
• Treat by rest, warmth, rehydration by oral fluids and/or intravenous normal saline
(3 L in 24 h) and antibiotics if infection is present
• Analgesia at the appropriate level should be given. Suitable drugs are
paracetamol, a non-steroidal anti- inflammatory agent and opiates, depending on
the severity of pain
• Blood transfusion is given if there is very severe anaemia with symptoms or with
impending critical organ complications.
• Exchange transfusion may be needed, particularly if there is neurological damage
or repeated painful crises. This is aimed at achieving an Hb S percentage of less
than 30% and, after a stroke, is continued for at least one year with subsequent
hydroxycarbamide.
• For hepatic or splenic sequestration and for aplastic crisis, blood transfusion is
essential and may be life-saving
• Crizanlizumab
A monoclonal antibody against P-selectin that is involved in adhesion of sickle
cells to blood vessel walls, has been shown to reduce the time to resolution of a
painful crisis
Allogeneic stem cell transplantation
• Allogeneic transplant can cure sickle cell anaemia, with 80% disease
free after the procedure
• The mortality rate is less than 10% if patients are carefully selected
• Transplantation is only indicated in the severest of cases whose
quality of life or life expectancy is substantially impaired
Gene therapy
• Clinical trials are in progress using an autologous marrow stem cell
transplant procedure
• Initial trials are aimed at increasing Hb F production in harvested stem
cells before they are reinfused
• Patient stem cells are harvested from bone marrow or peripheral
blood, and a lentiviral vector is used to introduce a gene construct in
vitro into these stem cells
• The construct is designed to enhance normal β-globin synthesis, or to
improve fetal haemoglobin synthesis
• They have produced promising results
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• References
• Nelson Textbook of paediatrics 17th edition- (pgs 1624-1628)
• Guidelines for the Management of the Acute Painful Crisis in Sickle
Cell Disease:
• British Committee for Standards in Haematology: Task Force by the
Sickle Cell Working Party
• The management of Sickle cell Disease. NIH Division of blood diseases
and resources. 2002
EXTRA SLIDES
Red Blood Cell Distribution Width (RDW): Definition
The red cell distribution width (RDW) is a measurement derived from the red blood
cell distribution curves generated on automated hematology analyzers and is an
indicator of variation in RBC size within a blood sample.
The RDW is used along with the indices (MCV, MCH, MCHC) to describe a
population of RBCs.
The RDW measures the deviation of the RBC width, not the actual width or size of
individual cells.
The RDW test indicates the difference in size ( anisocytosis)and shape (
poikilocytosis) between the smallest ( mature; normocytes) and largest red blood
cells ( reticulocytes ) in a sample. The latter are large owing to the fact that they are
nucleated.
The more mature the RBCs are the more concentrated haemoglobin they have. The
uneven distribution of RBCs leads to cells of polychromasia
RDW test results may be higher if more cells are larger or smaller than average.
The following types of anemia can cause a high RDW count:
• macrocytic anemia (Folate and Vit B12 deficiencies)
• microcytic anemia ( Iron deficiency)
• hemolytic anemias ( SCA, Sepsis, Malaria, Myelodysplastic conditions)
A normal range for the RDW-CV is approximately 11.0 - 15.0%.

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原版一模一样【微信:741003700 】【(aston毕业证书)英国阿斯顿大学毕业证成绩单】【微信:741003700 】学位证,留信学历认证(真实可查,永久存档)原件一模一样纸张工艺/offer、在读证明、外壳等材料/诚信可靠,可直接看成品样本,帮您解决无法毕业带来的各种难题!外壳,原版制作,诚信可靠,可直接看成品样本。行业标杆!精益求精,诚心合作,真诚制作!多年品质 ,按需精细制作,24小时接单,全套进口原装设备。十五年致力于帮助留学生解决难题,包您满意。 本公司拥有海外各大学样板无数,能完美还原。 1:1完美还原海外各大学毕业材料上的工艺:水印,阴影底纹,钢印LOGO烫金烫银,LOGO烫金烫银复合重叠。文字图案浮雕、激光镭射、紫外荧光、温感、复印防伪等防伪工艺。材料咨询办理、认证咨询办理请加学历顾问Q/微741003700 【主营项目】 一.毕业证【q微741003700】成绩单、使馆认证、教育部认证、雅思托福成绩单、学生卡等! 二.真实使馆公证(即留学回国人员证明,不成功不收费) 三.真实教育部学历学位认证(教育部存档!教育部留服网站永久可查) 四.办理各国各大学文凭(一对一专业服务,可全程监控跟踪进度) 如果您处于以下几种情况: ◇在校期间,因各种原因未能顺利毕业……拿不到官方毕业证【q/微741003700】 ◇面对父母的压力,希望尽快拿到; ◇不清楚认证流程以及材料该如何准备; ◇回国时间很长,忘记办理; ◇回国马上就要找工作,办给用人单位看; ◇企事业单位必须要求办理的 ◇需要报考公务员、购买免税车、落转户口 ◇申请留学生创业基金 留信网认证的作用: 1:该专业认证可证明留学生真实身份 2:同时对留学生所学专业登记给予评定 3:国家专业人才认证中心颁发入库证书 4:这个认证书并且可以归档倒地方 5:凡事获得留信网入网的信息将会逐步更新到个人身份内,将在公安局网内查询个人身份证信息后,同步读取人才网入库信息 6:个人职称评审加20分 7:个人信誉贷款加10分 8:在国家人才网主办的国家网络招聘大会中纳入资料,供国家高端企业选择人才 办理(aston毕业证书)英国阿斯顿大学毕业证【微信:741003700 】外观非常简单,由纸质材料制成,上面印有校徽、校名、毕业生姓名、专业等信息。 办理(aston毕业证书)英国阿斯顿大学毕业证【微信:741003700 】格式相对统一,各专业都有相应的模板。通常包括以下部分: 校徽:象征着学校的荣誉和传承。 校名:学校英文全称 授予学位:本部分将注明获得的具体学位名称。 毕业生姓名:这是最重要的信息之一,标志着该证书是由特定人员获得的。 颁发日期:这是毕业正式生效的时间,也代表着毕业生学业的结束。 其他信息:根据不同的专业和学位,可能会有一些特定的信息或章节。 办理(aston毕业证书)英国阿斯顿大学毕业证【微信:741003700 】价值很高,需要妥善保管。一般来说,应放置在安全、干燥、防潮的地方,避免长时间暴露在阳光下。如需使用,最好使用复印件而不是原件,以免丢失。 综上所述,办理(aston毕业证书)英国阿斯顿大学毕业证【微信:741003700 】是证明身份和学历的高价值文件。外观简单庄重,格式统一,包括重要的个人信息和发布日期。对持有人来说,妥善保管是非常重要的。

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Computer aided biopharmaceutical characterization
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Gastrointestinal simulation, Theoretical background, Model construction, Parameters sensitivity analysis, Virtual trial, Fed vs Fasted state, Biowaiver consideration

pharmacybiopharmaceutics
Howell-Jolly bodies are remnants of RBC nuclei that are normally
removed by the spleen. Thus, they are seen in patients who have
undergone splenectomy (as in this case) or who have functional
asplenia (eg, from sickle cell disease). Target cells (arrows) are another
consequence of splenectomy. RBC: red blood cell.
Copyrights apply
Copyrights apply
Topic: SICKLE CELL DISEASE IN CHILDREN-3.pdf

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Topic: SICKLE CELL DISEASE IN CHILDREN-3.pdf

  • 2. Learning Objectives At the end of this lecture, the student will be able to: 1. Understand the epidemiology of SCD 2. Define SCD and SCA 3. Determine the cause of SCD 4. Understand the pathophysiology of SCD 5. Elicit clinical manifestations and complications 6. Institute management
  • 3. Definition Sickle Cell Disease (SCD) denotes all genotypes containing at least one sickle gene in which HbS makes up at least half the haemoglobin present. It is an autosomal recessive genetic disorder Sickle cell anemia is the most common form of cases of SCD in patients of African ethnicity. In addition to Sickle Cell Anaemia (HbSS) there are four other compound heterozygous conditions which can occur : • Haemoglobin SC • Haemoglobin S/DPunjab • Haemoglobin S/ß thalassaemia • Haemoglobin S/OArab • The most common severe syndrome is homozygous sickle cell anaemia (Hb SS) • The co-inheritance of α-thalassaemia or raised Hb F production with Hb SS results in a milder clinical course
  • 4. “Sickle Cell Disease is a genetic condition characterized by the inheritance of 2 abnormal genes coding for haemoglobin with one of them coding for Hb S” C.Chintu
  • 5. Epidemiology  4.4 million people have sickle cell disease worldwide, whilst about 43 million are living with sickle cell trait  About 80% of sickle cell disease cases occur in sub-Saharan Africa  The mortality rate for children <5 years of age ranges from 50% to 80%  The high burden of the disease is further exacerbated due to lack of access to comprehensive healthcare in the region  The incidence of sickle cell trait ranges from 20% to 30% in Cameroon, the Democratic Republic of the Congo, Gabon, Ghana, and Nigeria.  90% of the world’s sickle cell disease population lives in Nigeria, India, and the Democratic Republic of the Congo, where the disease affects up to 2% of the population.  Nigeria has the largest population of persons affected with sickle cell disease globally.  In Zambia, the sickle cell trait is carried by 20-25% of the population and 1-2% of babies born with the disease.
  • 9. Pathophysiology • SCd is caused by a genetic abnormality called a point mutation • It is characterized by a single nucleotide substitution in the 6th codon of the ß globin gene results in the substitution of glutamic acid (A) for valine (T)on the surface of the variant ß-globin chain. • This change allows HbS to polymerise when deoxygenated, the primary event in all sickle cell pathology • This mutation alters the haemoglobin resulting in Hb S which is insoluble and forms crystals when exposed to low oxygen tension
  • 10. • When deoxygenation (decreased O2 tension) occurs, the Hb molecule undergoes rearrangement secondary to the amino acid substitution. • The RBC becomes elongated, rigid, and curved on the ends, resembling a sickle shape. • Abnormalities within the red blood cells include: - Abnormal hemoglobin (HbS) - Decreased intracellular potassium , - Abnormal phosphorylation in cellular membrane leading to dehydration within the cell and increased membrane calcium levels, leaving the cell in an irreversible sickle shape. The red cells containing this denatured fibrous haemoglobin experience membrane damage and form sickle shapes, and may block different areas of the microcirculation or large vessels, causing damage (infarcts) of various organs.
  • 12. Clinical Features The disease does not present clinically until 6 months after birth as the HbF wanes and HbS fully expressing itself. Early clinical features are as a result of hyperhemolysis and increased erythropoesis: 1. Skull bones bossing as a result of extramedullary illustrated by hair-on-end picture on X-ray. 2. Recurrent jaundice ( usually mild) due to haemolysis 3. Anaemia: 6-8g/dl 4. Splenomegaly ( in infancy)/ Hypersplenism 5. Failure to thrive
  • 13. SCD events 1. Steady state: This is defined as that period when there is no recent drop in the hemoglobin level and there is absence of infection, pain, acute complicating factors or acute clinical symptoms or crisis for at least 3 months established by a careful history and complete physical examination.
  • 14. SCD events 2. Vaso-occlusive crisis • The cause of vaso-occlusive crisis (VOC) is believed to be ischemic tissue injury from the obstruction of blood flow by sickled erythrocytes. Reduced blood flow causes hypoxia and acidosis that eventually leads to ischemic tissue injury. • Infection, fever, acidosis, hypoxia, dehydration, sleep apnea, and exposure to extremes of heat and cold can precipitate crises. Often, no cause is identified.  Treat the precipitant if known.  Administer a potent analgesia following the WHO ladder of pain management and intravenous fluids.  Indications for transfusing the patient are: if pain is severe; involves the whole body; priapism; acute chest syndrome; stroke; splenic of hepatic sequestration
  • 15. SCD events 3. Hyper-haemolytic crisis Significant change in blood picture characterised by a rapid fall in the haemoglobin level associated with jaundice, marked reticulocytosis, and polychromasia on the blood smear, increased unconjugated hyperbilirubinaemia, and increased urobilinogen content in urine above the steady state level for each individual patient.
  • 16. SCD events 4. Splenic sequestration  Caused by RBCs trapped in the splenic circulation leading to a rapid decrease in Hb level, reticulocytosis ,rapid enlargement of the spleen and signs of acute circulatory collapse.  It is a life threatening event and a medical emergency!  It is common in children younger than 2 years. Immediate treatment includes :  Shock treatment and blood transfusion as patient may present in shock with severe anemia.  Recurrence is about 50% splenectomy is often needed.
  • 17. SCD events 5. Aplastic crisis  Aplastic crisis occurs when red cell production is temporarily (7-10 days) reduced while the ongoing hemolytic process continues, resulting in severe anaemia.  The total WBC or platelet counts may or may not be affected. In addition, there is no significant increase in the unconjugated fraction of serum bilirubin.  The condition is characterized by a rapid fall in haemoglobin and the reticulocyte from a direct effect of parvovirus B19 or (rarely) other infectious agents on erythroid progenitors in the marrow. Treatment :  Blood transfusion and isolation of the patient. After 7–10 days, patients develop an antibody response resulting in viral neutralization and resumption of “normal” marrow erythroid activity.
  • 18. Complications CentralNervousSystem Urogenitalsystem Meningitis Urinarytractinfection Stroke Hyposthenuria Delayedsexualmaturation Musculoskeletalsystem Priapism Vaso-occlusivecrisis Arthritis Gastroentestinal Osteomyelitis Legnon-healingulcers Acuteabdomen Cholecystitis Respiratorysystem Cholelithiasis Pneumonia Hepatitis Tuberculosis Acutechestsyndrome Cardiovascularsystem Heartfailure Cardiomegaly
  • 21. Avascular necrosis of the femoral head Dactylitis
  • 22. Diagnosis Screening of SCD can be done using the following tests: • Sickling/Solubility test • Sickle-Scan Confirmation of SCD and Newborn screening for SCD can be done using • Haemoglobin (Hb) electrophoresis • Iso-electric Focusing (IEF) • High performance liquid chromatography (HPLC) Other supporting tests (Which can serve as baseline tests and follow up tests include) • Complete/Full blood count [CBD/FBC] Liver function tests (LFTs) • Kidney/Renal function tests (RFTs) • And others on per patient basis FBC: The haemoglobin is usually 6–9 g/dL Sickle cells and target cells occur in the blood Howell–Jolly bodies (Features of splenic atrophy) RDW-CV > 15% (11-15%) Normal or increased MCV (80-100 fl) Increased reticulocyte count ( > 3%)
  • 24. Hb Solubility Test In the presence of Sodium Dithionite, Hb S precipitates causing turbidity of the reaction mixture. Under the same conditions, Hb A, as well as most other hemoglobins, are soluble. Reactive - If any sickling hemoglobin is present, the solution will be sufficiently turbid to prevent reading the Line Scale through the test tube. Nonreactive - If a sickling hemoglobin is not present, the solution will be clear enough to allow the Line Scale to be seen through the test tube.
  • 25. Electrophoresis is a separation technique used in clinical and research laboratories for the purpose of separating molecules according to their size and electrical charge in a fluid or gel under the influence of an electric field.
  • 26. Haemoglobin Electrophoresis HbA is the most positively charged among the normal adult hemoglobin types and moves the farthest toward the cathode. HbF has a slightly lower positive charge than HbA. HbA2 is the most negatively charged and moves only very slightly away from the anode.
  • 28. Management General Treatment • Prophylactic – avoid those factors known to precipitate crises, especially dehydration, anoxia (e.g. high altitudes), infections, stasis of the circulation and cooling of the skin surface • Folic acid • Good general nutrition and hygiene • PCV, Hib and meningococcal vaccination and regular oral penicillin are effective at reducing the infection rate with these organisms • Hepatitis B vaccination should also be given, as transfusions may be needed and • Malarial prophylaxis is required in countries where malaria is prevalent
  • 29. Specific Treatment • Treat by rest, warmth, rehydration by oral fluids and/or intravenous normal saline (3 L in 24 h) and antibiotics if infection is present • Analgesia at the appropriate level should be given. Suitable drugs are paracetamol, a non-steroidal anti- inflammatory agent and opiates, depending on the severity of pain • Blood transfusion is given if there is very severe anaemia with symptoms or with impending critical organ complications. • Exchange transfusion may be needed, particularly if there is neurological damage or repeated painful crises. This is aimed at achieving an Hb S percentage of less than 30% and, after a stroke, is continued for at least one year with subsequent hydroxycarbamide. • For hepatic or splenic sequestration and for aplastic crisis, blood transfusion is essential and may be life-saving • Crizanlizumab A monoclonal antibody against P-selectin that is involved in adhesion of sickle cells to blood vessel walls, has been shown to reduce the time to resolution of a painful crisis
  • 30. Allogeneic stem cell transplantation • Allogeneic transplant can cure sickle cell anaemia, with 80% disease free after the procedure • The mortality rate is less than 10% if patients are carefully selected • Transplantation is only indicated in the severest of cases whose quality of life or life expectancy is substantially impaired
  • 31. Gene therapy • Clinical trials are in progress using an autologous marrow stem cell transplant procedure • Initial trials are aimed at increasing Hb F production in harvested stem cells before they are reinfused • Patient stem cells are harvested from bone marrow or peripheral blood, and a lentiviral vector is used to introduce a gene construct in vitro into these stem cells • The construct is designed to enhance normal β-globin synthesis, or to improve fetal haemoglobin synthesis • They have produced promising results
  • 33. • References • Nelson Textbook of paediatrics 17th edition- (pgs 1624-1628) • Guidelines for the Management of the Acute Painful Crisis in Sickle Cell Disease: • British Committee for Standards in Haematology: Task Force by the Sickle Cell Working Party • The management of Sickle cell Disease. NIH Division of blood diseases and resources. 2002
  • 35. Red Blood Cell Distribution Width (RDW): Definition The red cell distribution width (RDW) is a measurement derived from the red blood cell distribution curves generated on automated hematology analyzers and is an indicator of variation in RBC size within a blood sample. The RDW is used along with the indices (MCV, MCH, MCHC) to describe a population of RBCs. The RDW measures the deviation of the RBC width, not the actual width or size of individual cells.
  • 36. The RDW test indicates the difference in size ( anisocytosis)and shape ( poikilocytosis) between the smallest ( mature; normocytes) and largest red blood cells ( reticulocytes ) in a sample. The latter are large owing to the fact that they are nucleated. The more mature the RBCs are the more concentrated haemoglobin they have. The uneven distribution of RBCs leads to cells of polychromasia RDW test results may be higher if more cells are larger or smaller than average. The following types of anemia can cause a high RDW count: • macrocytic anemia (Folate and Vit B12 deficiencies) • microcytic anemia ( Iron deficiency) • hemolytic anemias ( SCA, Sepsis, Malaria, Myelodysplastic conditions) A normal range for the RDW-CV is approximately 11.0 - 15.0%.
  • 37. Howell-Jolly bodies are remnants of RBC nuclei that are normally removed by the spleen. Thus, they are seen in patients who have undergone splenectomy (as in this case) or who have functional asplenia (eg, from sickle cell disease). Target cells (arrows) are another consequence of splenectomy. RBC: red blood cell.