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Case report of HbC/ β 0 ‐thalassemia from India
Author(s) -
KUMAR S.,
RANA M.,
HANDOO A.,
SAXENA R.,
VERMA I. C.,
BHARGAVA M.,
SOOD S. K.
Publication year - 2007
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1365-2257.2006.00850.x
Subject(s) - compound heterozygosity , thalassemia , heterozygote advantage , medicine , beta thalassemia , pediatrics , anemia , mutation , genotype , genetics , biology , gene
Summary This 22‐year‐old women presented to the ante‐natal clinic of this hospital for prenatal screening for β ‐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/ β ‐thalassemia. The alkali and acid electrophoresis findings were consistent with the above diagnosis. The DNA analysis confirmed compound heterozygote state for HbC/ β 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 β ‐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).