Alpha thalassemia is caused by mutations in the genes responsible for producing alpha globin, resulting in excessive destruction of red blood cells and anemia. It is characterized by mild to severe anemia, enlargement of the liver and spleen, and other symptoms. Treatment involves regular blood transfusions, folic acid supplements, and iron chelation therapy. Bone marrow transplant may cure severe cases. Beta thalassemia is caused by mutations in the beta globin gene and is characterized by severe anemia and other symptoms from an early age. Treatment focuses on blood transfusions and iron chelation therapy.
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
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
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
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
Aplastic anemia is one of the stem cell disorder which leads to pancytopenia in the peripheral blood and decrease production of all cell line in bone marrow. it require bone marrow transplantation to cure the patient.
Aplastic anemia is one of the stem cell disorder which leads to pancytopenia in the peripheral blood and decrease production of all cell line in bone marrow. it require bone marrow transplantation to cure the patient.
Chemistry Investigatory Project Class 12 - Green Chemistry - Bio Diesel And B...Dhananjay Dhiman
Chemistry investigatory project for class 12 CBSE on the topic Green chemistry - bio diesel and bio petrol. It includes all the necessary formats and the content is relevant for the CBSE practical examination.
Contents :
General features of genes and chromosomes
General features of genetics
General features of chromosomes
Barr body
Genes
Aneuploidy
Chromosomes
Cytogenetics and DNA recombinant technology
General features of cytogenetic studies
Polymerase chain reaction
Restriction fragment length polymorphism
DNA fingerprinting
Fluorescence and luminence
Karyotyping
Blotting
Hybridoma technology
Genetic studies
Chromosomal studies
Transgenic animals
Gene incorporation
Recombinant technology
Gene therapy
Mode of inheritance of diseases
Inheritance of diseases
Features of inheritance
Mitochondrial inheritance
Genetic disorders
General features of genetic disorders
Rearrangement of transcription factors
Down’s syndrome
Trisomy 13
Trisomy 18
Trisomy 22
Turner syndrome
Klinefelter syndrome
Noonan syndrome
Disorders of DNA repair mechanism
For more details, visit www.medpgnotes.com
You can send your queries to medpgnotes@gmail.com
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
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Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
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TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
2. INTRODUCTION
Thalassemia is an inherited autosomal recessive
blood disorder.
which results in excessive destruction of red
blood cells and further leads to anemia.
It is caused by variant or missing genes that affect
how the body make haemoglobin.
People with thalassemia make less haemoglobin
and fewer circulating red blood cells than normal
,result in mild or severe anemia.
5. Alpha Thalassemia
Alpha thalassemia is the result of changes in the
genes for the alpha globin component in hemoglobin.
The worldwide distribution of inherited Alpha-
Thalassemia is corresponding to areas of Malaria
exposure.
6. ETIOLOGY
Mutation in the DNA of cells that produce
hemoglobin
It is a form of thalassemia involving the
genes HB1 and HB2
It is most commonly inherited in a
Mendelian recessive fashion
7. PATHPHYSIOLOGY
Alpha thalassemia results when there is
disturbance in production of α-globin from any
or all four of the α-globin genes.
Genes are responsible for regulating the
synthesis and structure of different globins which
are divided into 2 clusters.
The α-globin genes are encoded on chromosome
16 and the γ, δ, and β-globin genes are encoded
on chromosome 11
A normal person carries a linked pair of alpha
globin genes, 2 each from maternal and paternal
chromosome.
8. Therefore, alpha thalassemia occurs when there
is a disturbance in production of α-globin from
any or all four of the α-globin genes.
When functional point mutations, frame shift
mutations, nonsense mutations, and chain
termination mutations occur within or around the
coding sequences of the alpha-globin gene
cluster hemoglobin is impaired.
When that occurs, protein synthesis may be
inhibited.
9. Normal production of alpha chains is absent which
results in excess production of gamma- globin chains in
the fetus and newborn or beta- globin chains in children
and adults.
The β-globin chains are capable of forming soluble
tetramers (beta-4, or HbH)
This form of hemoglobin is still unstable and precipitates
within the cell, forming insoluble inclusions called Heinz
bodies
These Heinz bodies damage the red blood cells.
This further results in damage to erythrocyte precursors
and ineffective erythropoiesis in the bone marrow,
hypochromia and microcytosis of circulating red blood
cells
10.
11. CLINICAL PRESENTATION
Shortage of red blood cells- Anemia
Pale skin
Weakness
Fatigue
Enlarged liver and spleen- hepatosplenomegaly
12. Heart defects
Abnormalities of the urinary system or genitalia
Hb Bart syndrome can cause complications in pregnancy such
as
High blood pressure
Premature delivery
Abnormal bleeding
Jaundice
13. Treatment of Alpha Thalassemia
Treatment for thalassemia often involves regular
blood transfusions and folate supplements.
If you receive blood transfusions, you should not take
iron supplements. Doing so can cause a high amount
of iron to build up in the body, which can be harmful.
Persons who receive significant numbers of blood
transfusions need a treatment called chelation therapy
to remove excess iron from the body.
Bone marrow transplant may help treat the disease in
some patients, especially children.
14. Surgical Treatment
Perform splenectomy if transfusion
requirements are increasing.
Surgical or orthodontic correction may
be necessary to correct skeletal
deformities of the skull and maxilla
caused by erythroid hyperplasia.
DEFEROXAMINE - INJECTION
16. FOLIC ACID - ORAL
BRAND NAME(S): FA-8
USES
Folic acid is the man-made form of folate which is a
B6-vitamin naturally found in some foods.
It is needed to form healthy cells, especially red
blood cells.
Active forms of folic acid are: L-methylfolate and
levomefolate
Folic acid supplements are used to treat or prevent
low folate levels.
17. SIDE EFFECTS
Folic acid usually has very few side
effects
Possible side effects include:
Serious allergic reaction, including:
rash, itching/swelling (especially of
the face/tongue/throat), dizziness,
trouble breathing
18. Folic acid is safe to take during pregnancy
when used as directed. It is included in
prenatal vitamin products.
Certain spinal cord birth defects may be
prevented by taking adequate amounts of
folic acid during pregnancy.
19.
20. Beta Thalassemia
Specifically, it is characterized by a
genetic deficiency in the synthesis
of beta- globin chains.
Beta-globin is a component
(subunit) of hemoglobin.
21. Types
Thalassemia Major
(Cooley's anemia)
Thalassemia Minor
-severe form of beta
thalassemia - presence of one normal
gene and one with a
- presence of two mutation
abnormal genes that
cause either a severe - causes mild to
decrease or complete moderate mild
lack of beta globin anemia.
production.
22. ETIOLOGY
Beta thalassemia is caused by a deficiency of Beta
globin inherited in an autosomal recessive
pattern, which means both copies of the
HBB(Hemoglobin beta) gene in each cell have
mutations.
The parents of an individual with an autosomal
recessive condition each carry one copy of the mutated
gene, but they typically do not show signs and
symptoms of the condition.
23.
24. Etiology-cont’d
A lack of beta-globin leads to a reduced amount of functional
hemoglobin. Without sufficient hemoglobin, red blood cells
do not develop normally, causing a shortage of mature red
blood cells.
The low number of mature red blood cells leads to anemia
and other associated health problems in people with beta
thalassemia.
25. Clinical Presentations
Thalassemia minor- characterized by mild anemia
Symptoms of beta thalassemia major appear in the first two years
of life.
Fatigue and weakness
Pale skin or jaundice (yellowing of the skin)
Protruding abdomen with enlarged spleen and liver
26. Clinical Presentations
Dark urine
Abnormal facial bones and poor growth
A poor appetite.
Adolescents with the severe form of beta
thalassemia may experience delayed puberty.
27. PATHOPHYSIOLOGY
In Beta thalassemia major, patients have severe anemia, ineffective
erythropoiesis, extramedullary hematopoiesis, and iron overload
resulting from transfusion and increased iron absorption.
The skin may show pallor from anemia and jaundice from
hyperbilirubinemia.
The skull and other bones may be deformed secondary to erythroid
hyperplasia with intramedullary expansion and cortical bone
thinning.
Heart examination may reveal findings of cardiac failure and
arrhythmia, related to either severe anemia or iron overload.
28. Abdominal examination may reveal changes in
the liver, gallbladder, and spleen.
Patients who have received blood transfusions
may have hepatomegaly or chronic hepatitis due
to iron overload.
The gallbladder may contain bilirubin stones
formed as a result of the patient's lifelong
hemolytic state.
29. Pathophysiology- Cont’d
Splenomegaly typically is observed as part of the
extramedullary hematopoiesis or as a hypertrophic
response related to the extravascular hemolysis.
In addition to cardiac
dysfunction, hepatomegaly, and hepatitis, iron
overload can also cause endocrine
dysfunction, especially affecting the
pancreas, testes, and thyroid.
Transfusion-associated viral hepatits resulting in
cirrhosis or portal hypertension also may be seen.
30. Surgical Treatment
Splenectomy- decrease transfusion requirements
Cholecystectomy- Patients with thalassemia
minor may have bilirubin stones in their
gallbladder and, if symptomatic, may require
treatment. Perform a cholecystectomy using a
laparoscope or carry out the procedure at the
same time as the splenectomy.
34. References
American College of Obstetricians and Gynecologists (ACOG). Hemoglobinopathies in Pregnancy. ACOG Practice Bulletin, number 78, January 2007.
Beta Thalassemia. (Sept 2, 2011). Retrieved from http://emedicine.medscape.com/article/206490-overview
Bleibel, S. et al. Thalassemia, Alpha. Retrieved: 29 September, 2011 from http://emedicine.medscape.com/article/206397-overview#a0104
Cohen, A.R., et al. Thalassemia. Hematology 2004, American Society of Hematology, pages 14-34.
Cooley’s Anemia Foundation. About Thalassemia. Updated 2007.
Cunningham, M.J. Update on Thalassemia: Clinical Care and Complications. Pediatric Clinics of North America, volume 55, April 2008, pages 447-460.
Deferoxamine [Pharm GKB]. (n.d.). Retrieved from http://www.pharmgkb.org/do/serve?objId=PA164746490&objCls=Drug#tabview=tab1
Di Bartolomeo, P., et al. Long-term Results of Survival in Patients with Thalassemia Major Treated with Bone Marrow Transplantation. American Journal of
Hematology, February 13, 2008 (Epub ahead of print).
Exjade (Deferasirox) Drug Information… (Aug 19, 2011). Retrieved from http://www.rxlist.com/exjade-drug.htm
Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005
Food and Drug Administration (FDA). FDA Approves First Oral Drug for Chronic Iron Overload. FDA News, November 9, 2005.
Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; and Yi-Bin
Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., Review
Date: 1/31/2010,Thalassemia, retrieved on 2011-09-30, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001613/
Lucile Packard Children’s Hospital at Standford. 2011. Alpha Thalassemia. Retrieved: 29 September, 2011 from http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalapth.htmlth
Editor's Notes
Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.
Major -usually appears in an infant after three months of age and causes life-threatening anemia
Ineffective erythropoiesis is the active erythropoiesis with premature death of created red blood cells RBCs, a decreased output of red blood cells from the bone marrow and consequently anemia.Extramedullary hematopoiesis refers to hematopoiesis(formation of blood cellular components) occurring outside of the medulla of the bone.Erythroid hyperplasia is excessive growth of immature red blood cells.Hepatomegaly is the condition of having an enlarged liver
Chronic hepatitis is the inflammation of the liver and characterized by the presence of inflammatory cells in the tissue of the organ.Splenomegaly is the enlargement of the spleenExtravascular hemolysis occurs when RBCs are phagocytized by macrophages in the spleen, liver and bone marrow.portal hypertension is hypertension (high blood pressure) in the portal vein and its tributaries