THALASSEMIA

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LEARNING OUTCOMES
WHAT IS THALASSEMIA

CLASSIFICATION OF THALASSEMIA
COMPLICATIONS OF THALASSEMIA TREATMENT

WHAT IS THALASSEMIA ??
Group of disorders which result from an inherited

abnormality of globin production Results from defects in rate of synthesis of alpha or beta chains globin Affect the bodys ability to produce hemoglobin/RBCs too small anaemia Vary from asymptomatic carriers to severe anaemia

CLASSIFICATION
Beta thalassemia

Alpha thalassemia
Misc thalassemic syndromes

BETA - THALASSEMIA
2 globin genes needed to make beta globin chain

1 from each parent

1 or 2 absent of gene leads to beta thalassemia If 1 gene absent/mutated, lead to beta thalassemia minor If both gene absent/mutated, lead to severe beta

thalassemia

SPECIAL LAB TEST FOR HB FETAL

By alkali denaturation method

Hb A get denatured by strong alkali ( sodium hydroxide )

Hb F will not get denatured By acid elution test Cells containing Hb A appear as ghost cells Hb F will get stained

SIGNS AND SYMTOMPS

Jaundice

Fatigue
Pale skin Shortness of breath Delayed growth

ALPHA THALASSEMIA
4 globin genes needed to make alpha globin chain

2 from each parent

If 1 gene faulty, usually very mild or no symptomps at all

but is a carrier If 2 gene faulty, lead to alpha thalassemia minor If 3 gene faulty, lead to chronic anaemia ( Hb H disease ) Needs regular blood transfusions throughout life If 4 gene faulty, lead to alpha thalassemia major Cannot produce normal haemoglobin

SIGNS AND SYMTOMPS

Fatigue

Drowsiness
Angina osteoporosis

COMPLICATIONS OF THALASSEMIA
Iron overload

- By blood transfusion or disease itself

- Raises risk of liver diseases Splenomegaly - RBCs are abnormal in shape - Causing difficulty for spleen to destroy - Accumulation of RBCs

TREATMENT
Blood transfusion ( replenish haemoglobin and RBCs )

Iron chelation
Bone marrow transplant Splenectomy

REFERENCE
http://www.medicalnewstoday.com/articles/263489.php

Dr. Tejinder Singh, Textbook of Haematology 2nd Edition,

Published by Arya Publications, New Delhi Prof A.K Jain, Textbook Of Physiology 3rd Edition, Published by Avichal Publishing Company