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Beta thalassemia is caused by damaged or missing genes.

Two specific genes are


involved. There are several types of this disorder:

Beta thalassemia major (Cooley’s anemia). There are two damaged genes. This is
the most severe form of this disorder. People with this condition will need frequent blood
transfusions. They may not live a normal lifespan.
The child born with thalassemia major has two genes for beta thalassemia and no
normal beta-chain gene. The child is homozygous for beta thalassemia. This causes a
striking deficiency in beta chain production and in the production of Hb A. Thalassemia
major is a significant illness. The clinical picture associated with thalassemia major was
first described in 1925 by the American pediatrician Thomas Cooley. Hence, the name
Cooley's anemia in his honor. At birth the baby with thalassemia major seems entirely
normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin
(HbF). HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It
has no beta chains so the baby is protected at birth from the effects of thalassemia
major.

Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This
causes less severe anemia. People with this type have a 50% chance of passing the
gene to their children. If the other parent is not affected, their children will also have this
form of the disorder. The individual with thalassemia minor has only one copy of the
beta thalassemia gene (together with one perfectly normal beta-chain gene). The
person is said to be heterozygous for beta thalassemia. Persons with thalassemia minor
have (at most) mild anemia (slight lowering of the hemoglobin level in the blood). This
situation can very closely resemble that with mild iron-deficiency anemia. However,
persons with thalassemia minor have a normal blood iron level (unless they are iron
deficient for other reasons). No treatment is necessary for thalassemia minor. In
particular, iron is neither necessary nor advised.

 Thalassemia intermedia. is milder than thalassemia major. The signs and


symptoms of thalassemia intermedia appear in early childhood or later in life.
Affected individuals have mild to moderate anemia and may also have slow
growth and bone abnormalities.
β. Thalassemia intermedia

1. Co-inheritence with α-thalassemia trait.

2. minor qualitative defects in β-globin.

3. less Hemotetramers → less Hemolysis

4. Increase in HbF
5. ranges between minor & major

Many people with this disorder are given iron replacement by mistake. This happens
when a lack of iron is believed to cause their anemia. Too much iron can be harmful. So
it is important to get the right diagnosis. You may need to see a blood disorder
specialist, called a hematologist.

Complications of beta thalassemia vary depending on the type:

 Thalassemia intermedia can cause problems based on the severity of the anemia.
These problems include delayed growth, weak bones, and enlarged spleen.
 Beta thalassemia major causes major problems and can result in early death.
Complications may include delayed growth, bone problems causing facial changes,
liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes,
hypothyroidism, and heart problems.

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