Case report of HbC/beta(0)-thalassemia from India.

Abstract:

:This 22-year-old women presented to the ante-natal clinic of this hospital for prenatal screening for beta-thalassemia. Cation exchange high performance liquid chromatography (HPLC) using 'Beta Thalassemia Short Program' on Bio-Rad 'Variant' system revealed HbC value of 81.6%. The CBC showed microcytic hypochromic anemia. The HPLC and CBC suggested the possibility of compound heterozygote state for HbC/beta-thalassemia. The alkali and acid electrophoresis findings were consistent with the above diagnosis. The DNA analysis confirmed compound heterozygote state for HbC/beta(0)-thalassemia (Fr 8/9 mutation). The studies on the parents showed that mother was a compound heterozygote for HbD(Punjab) and HbC while father had beta-thalassemia trait. To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbD(Punjab) and HbC).

journal_name

Int J Lab Hematol

authors

Kumar S,Rana M,Handoo A,Saxena R,Verma IC,Bhargava M,Sood SK

doi

10.1111/j.1365-2257.2006.00850.x

subject

Has Abstract

pub_date

2007-10-01 00:00:00

pages

381-5

issue

5

eissn

1751-5521

issn

1751-553X

pii

CLH850

journal_volume

29

pub_type

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