Saturday, November 10, 2012

α-Thalassemia major

Fig: Cellulose acetate electrophoresis at pH 8.6.
1.      F, A, Hb Bart, Albumin in newborn.
2.      A, HbH, Albumin in an adult
3.      HbA and HbJ in adult

α-Thalassemia major: 

(α-Thalassemia major is the result of a two α-chain gene deletion. These deletions may be on same gene (-/αα, α0-thalassemia) described as cis-deletion or on different genes (-α/-α, α+-thalassemia) described as trans deletion. The CBC shows mildly reduced Hb level with low MCV and MCH. HbF and HbA2 within reference level. The presence of thalassemic indices in patient with normal HbA2 and HbF is often the basis for diagnosis of α-thalassemia major, particularly if family history is positive.

Thalassemia trait: 

There is a single α-globin chain deletion (-α/αα). A CBC shows normal or marginally reduced Hb, MCV and MCH. 

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