Sickle cell disease (SCD) describes a group of inherited red blood cell disorders where individuals have abnormal hemoglobin called hemoglobin S. There are several forms of SCD. It is one of the most common genetic disorders globally, affecting millions, particularly in sub-Saharan Africa, India, and the Middle East. Left untreated, more than half of children with SCD in resource-poor countries will die before age five. Management involves treatment of pain crises, infections, chronic anemia, and complications through hydration, antibiotics, pain medications, transfusions, hydroxyurea and folic acid supplementation.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
A presentation made about Sickle cell disease by Yara Mostafa, Yasser Osama, Yaser Mostafa ,Ain shams university, Medicine faculty, first year students.
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
View all Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal.
Get here,
1. WHAT IS THALASSEMIA?
2. Molecular Basis of Thalassemia.
3. Types of Thalassemia.
4. - Thalassemia.
5.Types of - Thalassemia.
6. 휷- Thalassemia.
7. Types of 휷- Thalassemia.
8. Thalassemia Syndrome.
9.Treatment
Sickle cell disease (SCD) is a group of inherited blood disorders caused by an abnormal hemoglobin- hemoglobin S (HbS).
HbS results from point mutation in the B –globin genes, resulting in the substitution of valine for glutamic acid at position 6 of the B-globin chains. SCA (HBSS) is the most common and most severe form
An estimate of over 300,000 babies annually are born globally with SCD and 80% are from sub-Saharan Africa (SSA)
In Uganda, 20,000 babies are born with SCA annually, and its estimated that 80% die before their fifth birthday .
Sickle cell disease (SCD) is a group of inherited blood disorders caused by an abnormal hemoglobin- hemoglobin S (HbS).
HbS results from point mutation in the B –globin genes, resulting in the substitution of valine for glutamic acid at position 6 of the B-globin chains. SCA (HBSS) is the most common and most severe form
An estimate of over 300,000 babies annually are born globally with SCD and 80% are from sub-Saharan Africa (SSA)
In Uganda, 20,000 babies are born with SCA annually, and its estimated that 80% die before their fifth birthday .
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
Image result for thalassemia
View all Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal.
Get here,
1. WHAT IS THALASSEMIA?
2. Molecular Basis of Thalassemia.
3. Types of Thalassemia.
4. - Thalassemia.
5.Types of - Thalassemia.
6. 휷- Thalassemia.
7. Types of 휷- Thalassemia.
8. Thalassemia Syndrome.
9.Treatment
Sickle cell disease (SCD) is a group of inherited blood disorders caused by an abnormal hemoglobin- hemoglobin S (HbS).
HbS results from point mutation in the B –globin genes, resulting in the substitution of valine for glutamic acid at position 6 of the B-globin chains. SCA (HBSS) is the most common and most severe form
An estimate of over 300,000 babies annually are born globally with SCD and 80% are from sub-Saharan Africa (SSA)
In Uganda, 20,000 babies are born with SCA annually, and its estimated that 80% die before their fifth birthday .
Sickle cell disease (SCD) is a group of inherited blood disorders caused by an abnormal hemoglobin- hemoglobin S (HbS).
HbS results from point mutation in the B –globin genes, resulting in the substitution of valine for glutamic acid at position 6 of the B-globin chains. SCA (HBSS) is the most common and most severe form
An estimate of over 300,000 babies annually are born globally with SCD and 80% are from sub-Saharan Africa (SSA)
In Uganda, 20,000 babies are born with SCA annually, and its estimated that 80% die before their fifth birthday .
Nephritis is a inflammation of kidney .
It is classified into various types like lupus nephritis ,interstitial nephritis , glomerulonephritis ,pyelonephritis.
Lupus nephritis is an inflammation of kidney due to autoimmune disorder named as lupus .
It is inflammation of lower urinary tract .
Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
Medical Technology Tackles New Health Care Demand - Research Report - March 2...pchutichetpong
M Capital Group (“MCG”) predicts that with, against, despite, and even without the global pandemic, the medical technology (MedTech) industry shows signs of continuous healthy growth, driven by smaller, faster, and cheaper devices, growing demand for home-based applications, technological innovation, strategic acquisitions, investments, and SPAC listings. MCG predicts that this should reflects itself in annual growth of over 6%, well beyond 2028.
According to Chris Mouchabhani, Managing Partner at M Capital Group, “Despite all economic scenarios that one may consider, beyond overall economic shocks, medical technology should remain one of the most promising and robust sectors over the short to medium term and well beyond 2028.”
There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
The average cost of treatment has been rising across the board, creating additional financial burdens to governments, healthcare providers and insurance companies. According to MCG, cost-per-inpatient-stay in the United States alone rose on average annually by over 13% between 2014 to 2021, leading MedTech to focus research efforts on optimized medical equipment at lower price points, whilst emphasizing portability and ease of use. Namely, 46% of the 1,008 medical technology companies in the 2021 MedTech Innovator (“MTI”) database are focusing on prevention, wellness, detection, or diagnosis, signaling a clear push for preventive care to also tackle costs.
In addition, there has also been a lasting impact on consumer and medical demand for home care, supported by the pandemic. Lockdowns, closure of care facilities, and healthcare systems subjected to capacity pressure, accelerated demand away from traditional inpatient care. Now, outpatient care solutions are driving industry production, with nearly 70% of recent diagnostics start-up companies producing products in areas such as ambulatory clinics, at-home care, and self-administered diagnostics.
Telehealth Psychology Building Trust with Clients.pptxThe Harvest Clinic
Telehealth psychology is a digital approach that offers psychological services and mental health care to clients remotely, using technologies like video conferencing, phone calls, text messaging, and mobile apps for communication.
Welcome to Secret Tantric, London’s finest VIP Massage agency. Since we first opened our doors, we have provided the ultimate erotic massage experience to innumerable clients, each one searching for the very best sensual massage in London. We come by this reputation honestly with a dynamic team of the city’s most beautiful masseuses.
India Clinical Trials Market: Industry Size and Growth Trends [2030] Analyzed...Kumar Satyam
According to TechSci Research report, "India Clinical Trials Market- By Region, Competition, Forecast & Opportunities, 2030F," the India Clinical Trials Market was valued at USD 2.05 billion in 2024 and is projected to grow at a compound annual growth rate (CAGR) of 8.64% through 2030. The market is driven by a variety of factors, making India an attractive destination for pharmaceutical companies and researchers. India's vast and diverse patient population, cost-effective operational environment, and a large pool of skilled medical professionals contribute significantly to the market's growth. Additionally, increasing government support in streamlining regulations and the growing prevalence of lifestyle diseases further propel the clinical trials market.
Growing Prevalence of Lifestyle Diseases
The rising incidence of lifestyle diseases such as diabetes, cardiovascular diseases, and cancer is a major trend driving the clinical trials market in India. These conditions necessitate the development and testing of new treatment methods, creating a robust demand for clinical trials. The increasing burden of these diseases highlights the need for innovative therapies and underscores the importance of India as a key player in global clinical research.
CHAPTER 1 SEMESTER V PREVENTIVE-PEDIATRICS.pdfSachin Sharma
This content provides an overview of preventive pediatrics. It defines preventive pediatrics as preventing disease and promoting children's physical, mental, and social well-being to achieve positive health. It discusses antenatal, postnatal, and social preventive pediatrics. It also covers various child health programs like immunization, breastfeeding, ICDS, and the roles of organizations like WHO, UNICEF, and nurses in preventive pediatrics.
The dimensions of healthcare quality refer to various attributes or aspects that define the standard of healthcare services. These dimensions are used to evaluate, measure, and improve the quality of care provided to patients. A comprehensive understanding of these dimensions ensures that healthcare systems can address various aspects of patient care effectively and holistically. Dimensions of Healthcare Quality and Performance of care include the following; Appropriateness, Availability, Competence, Continuity, Effectiveness, Efficiency, Efficacy, Prevention, Respect and Care, Safety as well as Timeliness.
2. What Is Sickle Cell Disease?
• Term sickle cell disease (SCD) describes a group of
inherited red blood cell disorders
• People with SCD have abnormal hemoglobin, called
hemoglobin S or sickle hemoglobin, in their red blood
cells
3. Forms of Sickle Cell Disease
• Hemoglobin SS
• Hemoglobin SC
• Hemoglobin Sβ0 thalassemia
• Hemoglobin Sβ+ thalassemia
• Hemoglobin SD
• Hemoglobin SE
Sickle Cell Anemia
4. Sickle Cell Disease: Global Issue
• One of the most common monogenic disorders globally
with an autosomal recessive inheritance
• Prevalence of sickle cell trait varies greatly between
different regions but reaches levels as high as 40 percent
in some areas of sub-Saharan Africa, eastern Saudi
Arabia, and central India
• In resource-poor countries more than 90 percent of
children with SCD do not survive to adulthood
5. Sickle Cell Disease: Global Issue
• Approximately 1,000 children in Africa are born with
SCD every day and more than half will die before they
reach five.
• SCD has a high prevalence in India, especially in the
central and western regions. Approximately 20
percent of children with SCD die by the age of two.
6. Origin of Sickle Cell Anaemia
A single mutation in hemoglobin results in a binding of one
protein to another.
Hemoglobin A Hemoglobin S
Biswal, B. K et al, Acta Crystallogr., Sect.D 58 pp. 1155 (2002)
Padlan, E. A et al, J Biol Chem 260 pp. 8272 (1985)
7. Normal and Sickled Red Blood Cells
in Blood Vessels
Figure A shows normal red blood
cells flowing freely in a blood vessel.
The inset image shows a cross-
section of a normal red blood cell
with normal hemoglobin.
Figure B shows abnormal, sickled red
blood cells clumping and blocking the
blood flow in a blood vessel. The inset
image shows a cross-section of a sickled
red blood cell with abnormal strands of
hemoglobin.
15. Screening Tests
• Indicate presence of HbS but do not define the Hb
genotype e.g. Solubility test
• Sickle solubility test
• Mixture of HbS in a reducing solution
• Gives a turbid appearance (Precipitation of HbS)
• Normal Hb gives a clear solution
16. Hb electrophoresis
• Most common for definitive diagnosis
• Based on differential protein mobility in an electrical
field
• Uses cellulose acetate or citrate agar buffers
17. Prenatal Diagnosis
• Usually in the first
trimester of pregnancy
• Samples are taken from
amniotic cells or
chorionic villus and DNA
analysis done by PCR and
DNA sequencing
22. Goals
• Management of vaso-occlusive crisis
• Management of chronic pain syndromes
• Management of chronic hemolytic anemia
• Prevention and treatment of infections
• Management of the complications and the various
organ damage syndromes associated with the disease
• Prevention of stroke
• Detection and treatment of pulmonary hypertension
23. Hydroxyurea Therapy
• Only drug currently approved by the US Food and
Drug Administration (FDA) for the treatment
• Increases total and fetal hemoglobin in children
Effects of
therapy with
hydroxyurea
24. Indications for hydroxyurea
• Frequent painful episodes (six or more per year)
• History of acute chest syndrome
• History of other severe vaso-occlusive events
• Severe symptomatic anemia
• Severe unremitting chronic pain that cannot be
controlled with conservative measures
• History of stroke or a high risk for stroke
Patients receiving hydroxyurea require frequent
blood testing and monitoring, with special attention
to development of leukopenia and/or
thrombocytopenia.
25. Transfusion
• Acute red cell exchange transfusion is indicated in
the following situations:
• Acute infarctive stroke
• Severe acute chest syndrome
• Multiorgan failure syndromes
• Right upper quadrant syndrome
• Priapism that does not resolve after adequate hydration
and analgesia
Transfusion-related complications include
alloimmunization, infection, and iron overload
26. Vaso-Occlusive Crisis Management
• Treated with vigorous intravenous hydration and
analgesics
• Normal saline and 5% dextrose in saline may be used
27. Control of Acute Pain
• Pain control is best achieved with opioids
• Morphine is the drug of choice
• National Institute for Health and Care Excellence
(NICE) guidelines recommendations 2014
• Tailor the analgesic drug, dose, and administration route
to the severity of the pain, the age of the patient, and any
analgesia the patient has already taken for the current
episode
28. Control of Acute Pain
• Offer a bolus of a strong opioid to all patients with severe pain and all
patients with moderate pain who have already taken an analgesic
• Consider a weak opioid for patients with moderate pain who have not
yet had any analgesia
• Offer all patients regular paracetamol (acetaminopen) and non-
steroidal anti-inflammatory drugs (NSAIDs) by a suitable
administration route, in addition to an opioid, unless contraindicated
• Do not offer pethidine (meperidine) for pain relief
• When opioids are used, offer laxatives and, as needed, antiemetics and
antipruritics
29. Treatment of Acute Chest Syndrome
• British Committee for Standards in Haematology (BCSH)
2015 guidelines for treatment of acute chest syndrome
(ACS) recommend use of the following measures
• Prompt and adequate pain relief
• Incentive spirometry – In patients with chest or rib pain, to
prevent ACS; should be considered in all patients with ACS
• Antibiotics, with cover for atypical organisms, even if blood
cultures and sputum cultures are negative
30. Treatment of Acute Chest Syndrome
• Anti-viral agents– If there is a clinical suspicion of H1N1 infection
• Early simple transfusion should be considered early in patients with
hypoxia; however, exchange transfusion is necessary in patients with
severe clinical features or evidence of progression despite initial
simple transfusion
• Transfused blood should be sickle-negative and fully matched for Rh
(C, D, and E type) and Kell antigens; a history of previous red cell
antibodies should be sought and appropriate antigen-negative blood
given
• Bronchodilators - In patients with clinical features suggesting a history
of asthma or evidence of acute bronchospasm
31. Control of Chronic Pain
• Chronic pain is managed with long-acting oral morphine
preparations and acetaminophen and NSAIDs
• NSAIDs are particularly effective in reducing deep bone
pain
• Weak agents, codeine and hydrocodone, are used first
• Meperidine should be avoided
• Hydroxyurea may decrease the frequency and severity of
pain episodes
32. Control of Chronic Pain
• Nonpharmacological approaches are also useful
• Physical therapy
• Heat and cold application
• Acupuncture and acupressure
• Hypnosis
• Transcutaneous electric nerve stimulation (TENS)
33. Management of Chronic Anemia
• Anemia is usually well tolerated
• Folic acid (1 mg/d)
• Commonly prescribed for adults to prevent development of
megaloblastic anemia due to increased folate requirements
caused by hemolysis
• May raise the Hb level and support a healthy reticulocyte
response
• Initiation of folic acid therapy
• For patients younger than 6 months, the usual dose is 0.1 mg per day
34. Management of Chronic Anemia
• For infants aged 6 months to 1 year, 0.25 mg per day
• For children aged 1-2 years, 0.5 mg per day
• For patients older than 2 years, 1 mg per day
• Blood transfusion
• Indicated In
• Acute chest syndrome
• Stroke
• Abnormal findings on transcranial Doppler in children (for
stroke prevention)
• Pregnancy
• General anesthesia
For anemic crisis with splenic sequestration, give early red cell
transfusions because the process can rapidly progress to
shock
35. Management of Infections
• Common organisms…….H. infl., pneumococcus,
salmonella spp., S. aureus.
• Choice of antibiotics:
• Chloramphenicol + Erythromycin
• Xtalline pen + Chloramphenicol
• Chloramphenicol + Cloxacillin
• Cephalosporins
37. Haematuria
• Usually stops spontaneously
• Conservative treatment:
• Liberal fluids, to reduce clot formation
• Correct anaemia
• Epsilon amino caproic acid, an antifibrinolytic agent, is
useful in mgt
38. Bone Marrow Transplantation
• Has curative potential
• Problems:
• GVHD
• Acute effects of total body irradiation
• Lack of suitable stem cell donors.
• Limited access to normal HLA identical
39. Diet and Activity Restrictions
• General well-balanced diet
• Patients with avascular necrosis of the femur may not
be able to tolerate weight bearing and may be
restricted to bed rest
• Patients with chronic leg ulcers may need to restrict
activity that involves raising the legs
40. References
• American Society Of Hematology, State Of Sickle Cell
Disease 2016 Report
• Roshan B. C, Malay B. M, Snehal M, Ghosh K, Sickle cell
disease in tribal populations in India, Indian J Med Res
141, May 2015, pp 509-515
• Sickle cell disease in India: A perspective, Indian J Med
Res 143, January 2016, pp 21-24
• Maakaron J E, et al, Sickle Cell Anemia,
www.Medscape.com,
http://emedicine.medscape.com/article/205926
Assessed on 18.12.16
• Sickle cell Anaemia, www.nhlbi.nih.gov,
https://www.nhlbi.nih.gov/health/health-
topics/topics/sca Assessed on 20.12.16
Treatment of iron overload is becoming easier with the new oral chelators.
Alloimmunization is a common problem that arises from the differences in certain minor red cell antigens found in the predominantly black patient population and the mostly white blood donors. Matching for C, E, Kell, JKB (Kidd), and Fya (Duffy) antigens can significantly reduce alloimmunization.
