Digestive system of human body: Important presentation about Thalassemia Microcytic Anemia

Sunday, March 15, 2015

Definition: hereditary underproduction of either the alpha or beta globin chains of the hemoglobin A resulting in a microcytic anemia.
Beta thalassemias are due to mutations in the HBB gene on chromosome 11.
The α thalassemias involve the genes HBA1 and HBA2 on chromosome 16.

Beta- Thalassemia

The β-globin mutations associated with β-thalassemia fall into two categories:
(1) β0, in which no β-globin chains are produced; and
(2) β+, in which there is reduced (but detectable) β-globin synthesis
Individuals inheriting one abnormal allele have thalassemia minor or thalassemia trait, which is asymptomatic or mildly symptomatic.
Most individuals inheriting any two β0 and β+ alleles have β-thalassemia major;
occasionally, individuals inheriting two β+ alleles have a milder disease termed β-thalassemia intermedia.

Alpha-Thalassemias

alpha- thalassemias result in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns.The excess β chains form unstable tetramers (called Hemoglobin H or HbH of 4 beta chains) which have abnormal . The severity of the alpha- thalassemias is correlated with the number of affected alpha-globin genes.
alpha0 thalassaemias, where there is lots of gama4 but no alpha-globins at all (referred to as Hb Barts), often result in still birth.

Diagnostic features of beta-thalassaemia

A physical exam may reveal a swollen (enlarged) spleen.
Blood test:
Red blood cells will appear small and abnormally shaped when looked at under a microscope.
A complete blood count (CBC) reveals anemia.
A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin

Treatment for thalassemia major 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.
Hydrops fetalis: none available
Haemoglobin H: no specific therapy required; avoid iron therapy; folic acid if necessary

TREATMENT OF BETA-THALASSAEMIA MAJOR

for details click below