title: 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).
authors.affiliation: Department of Haematology, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: M
authors.initials: M
authors.lastname: Rana
authors.forename: A
authors.initials: A
authors.lastname: Handoo
authors.forename: R
authors.initials: R
authors.lastname: Saxena
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: M
authors.initials: M
authors.lastname: Bhargava
authors.forename: S K
authors.initials: SK
authors.lastname: Sood
mesh_terms: D000328:Adult; D004912:Erythrocytes; D004913:Erythrocytes, Abnormal / Q000737:chemistry*; D005260:Female; D006445:Hemoglobin C Disease / Q000150:complications* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry; D006801:Humans; D007194:India; D007231:Infant, Newborn; D050498:Live Birth; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000150:complications* / Q000235:genetics