Alpha thalassemia

presented by HAFIZ M WASEEM
university of education LAHORE Pakistan
i am from mailsi vehari and studied in lahore

1. ALPHA THALASSEMIA HAFIZ M WASEEM UNIVERSITY OF EDUCATION LAHORE

2. CONTENTS Alpha Thalassemia Causes of Alpha Thalassemia Discovery Classification of Alpha Thalassemia Silent Carriers Alpha Thalassemia Trait Hb H Disease Hydrops Fetalis Clinical features Treatment Conclusion References

3. ALPHA THALASSEMIA Alpha Thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron rich protein in red blood cells that carries oxygen to cells throughout the body. It is the deficiency in the synthesis of alpha globin chain. Beta globin chains are not affected and are produced at a normal rate . It causes the shortage of red blood cells that causes anemia.

4. Causes Of Alpha Thalassemia It is caused by defective formation of alpha chain.The latter is controlled by two genes present on chromosome No:16. It is caused by either mutation or deletion in gene fragments.

5. DISCOVERY Thalassemia major is widely referred to as  Cooley's  anemia in reference to Dr.  Thomas Benton Cooley , the renowned researcher who discovered the disorder.

6. Classification of Alpha Thalassemia

7. Classification of Alpha Thalassemia 1-Silent Carrier Missing only one functional gene and other three genes are normal Asymptomatic Being a silent carrier means you don’t have signs of the disease, but you can pass the damaged gene on to your child. This is confirmed by DNA tests.

8. Conti… 2-Alpha Thalassemia Trait Two alpha genes are missing. This is alpha Thalassemia minor. Most common in South East Asia,West Africa and also occur in about 2% of African-America. Asymptomatic This is mild form of anaemia and it is not fatal.

9. Conti… 3-Hb H disease Also called “ Alpha Thalassemia Major.” It is Proper Alpha Thalassemia. 3 out of 4 alpha globin genes are missing It may have moderate to severe anemia. Patient with this anemia will have from 5-40% of HbH in their blood

10. Conti… 4-Hydrops Fetalis Also called ‘’ Hb bart syndrome .’’ There is complete deletion of alpha genes,so HbA and HbF are completely missing. This is a lethal and dangerous condition. This is a condition in which excess fluid builds up in the body before birth. Most severe form of alpha thalassemia. Condition is incompatible with life, majority of these babies are born prematurely as a stillbirth, or leads to death after birth

11. Diagnosis This disease can be diagnosed by: Measuring red blood cell (RBC) indices Examining a peripheral blood film Detecting RBC inclusion bodies, and qualitative and quantitative haemoglobin analysis. Haemoglobin electrophoresis show a decreased level of alpha globin. DNA testing be also useful in confirming the diagnosis.

12. Clinical Features Infants that survive untill birth exhibit significant physical changes upon routine exam The babies are: Underweight Jaundice Anaemia Weakness Pale or yellowish skin Fatigue Slow growth Abdominal swelling Hepatosplenomegaly Dark urine Facial bone deformities

13. Treatment Trait/silent carrier disease don’t required any sort of treatment Blood transfusion Folic acid may be used to treat anaemia Splenectomy Bone marrow transplants for Hb H disease There is no treatment of Hb bart syndrome because this disease is not life friendly and most complicated.It is the most severe type of thalassemia

14. CONCLUSION Alpha Thalassemia is a blood disorder that is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal.  This disease causes health problems and requires treatment by a physician.Missing four genes (Hydrops fetalis) this is a  life threatening  disease.

15. REFERENCES Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci. 2009 Apr;66(7):1154-62. doi: 10.1007/s00018-008-8529-9. Review. Citation on PubMed Global Burden of Disease Study 2013, Collaborators (22 August 2015). "Global, regional, and national incidence. WWW.googlescholar.com