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Sickle cell‐β + thalassaemia in Orissa State, India
Author(s) -
Kulozik Andreas E.,
Bail Sigrid,
Kar Bimal C.,
Serjeant Beryl E.,
Serjeant Graham E.
Publication year - 1991
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1991.tb07980.x
Subject(s) - hemoglobinopathy , genotype , disease , medicine , sickle cell anemia , thalassemia , population , fetal hemoglobin , prenatal diagnosis , gene , biology , gastroenterology , pediatrics , genetics , pregnancy , fetus , environmental health
Summary The clinical, haematological, and some molecular genetic features of 17 Orissan Indian patients with sickle cell‐β + thalassaemia (Sβ + that) are described and compared with those in 131 Indian patients with homozygous sickle cell (SS) disease. Patients with Sβ + that had higher Hb A 2 levels, and lower mean cell volume (MCV) and mean cell haemoglobin (MCH) compared to SS disease but no other haematological difference of statistical significance. High levels of Hb F occurred in both genotypes and the α + thalassaemia gene frequency reached 0 · 47 in Sβ + thai and 0 · 32 in SS disease. Clinically there were no significant differences between the genotypes indicating that the low levels of HbA (3‐5%) in this condition were insufficient to modify the clinical features. The thalassaemic β globin gene is inactivated by a G → C mutation at position 5 of the first intron of the β globin gene (IVS1–5 G → C) in all cases. This finding should facilitate the introduction of a prenatal diagnosis programme aimed at the prevention of β thalassaemia or Sβ + thalassaemia in that population.