This document discusses Thalassemia, a genetic blood disorder. It provides information on different types of Thalassemia and their inheritance patterns. It also outlines the benefits and disadvantages of different treatment options for Thalassemia Major, including regular blood transfusions combined with desferal therapy, which allows patients to experience less severe symptoms and improved survival chances compared to other treatments. The document also gives an overview of Thalassemia, explaining that it is caused by mutations affecting the production of the alpha or beta globin chains, resulting in an imbalance of chain ratios.

1. Normal Parents
Normal Children
Father , mother or both having Thalassemia.trait
Trait Normal Trait Trait
Trait Normal Trait Normal Trait T.Major
50% 25% 50% 25%
BLOOD TRANSFUSION
Only B Thalassaemia major will require
regular transfusions. B Thalassaemia Intermedia
may require occasional [ Top Up ]
BETTER CHANCES OF SURVIVAL
1. Blood Transfusion
2. Given Desferal
3. Splenectomy

2. Thalassaemia Benefits;
1. It corrects the Anemia and tissues get normal
amount of oxygen. This allows patient to
grow normally.
2. It lets bone marrow to rest so that bones can develop
normally and strong. Patients face will look normal too.
3. It slows down or prevents any increase in the size of
spleen and hypersplenism as well.
Thalassaemia Disadvantages;
1. Patients on High Transfusions are at greater risk of being
infected by unknown viruses that may be found in the
blood as compared to Low Transfusions cases.
2. If desferal is not used, there will be Iron-overload in
some important organs.
Benefits Of Treatment With High Transfusion And Desferal
High transfusion – maintaining Hb at 12-13gm/dL
Low transfusion – raising Hb from 6-10gm/dl.
A patient on high transfusions together with desferal will
exhibit less physical features of Thalassaemia than those
on low transfusion.

3. 1. Preliminary Tests
A full blood picture may predict the chances of
Thalasseamia with 60% - 70% accuracy.However
it is NOT THE TEST for Thalassaemia.
2. Specific Tests
a. Haemaglobin electrophoresis.
b. Alkaline denaturation test for HbF.
c. Chromatography for HbA2
Thalassaemia
Together with haemoglobinopathies, these are hypochromic, microcytic
anaemias. Thalassaemia is a genetic disorder which causes a decreased rate
of synthesis of either 1 or 2 globin chains. Caused by mutations in intergene
controlling sites that impairs or prevents gene expression, or by structural
gene deletions. No structurally abnormal haemoglobin ( Hb) is found.
Normally synthesized in the same ratios. Changes in the ratio produces an
excess of a or b chains. a – thal distribution is worldwide, however
especially found around the Meditterranean. b-thal is especially distributed
around South East Asia and New Guinea.
1. a- Thalassaemia ;
a-chains affected
four genes involved ( 2 a from each parent )
abnormality associated with a genes because of deletions

4. 2. b- Thassaemia ;
b-chains
two genes involved
abnormality associated with B-genes because of mutations affecting
and decreasing the production of mRNA.