Sickle Cell Disease in Central India: A Potentially Severe Syndrome.

Objectives: To explore clinical, hematological and molecular features of homozygous sickle cell (SS) disease in central India.

Methods: Focusing on the pediatric age group attending a clinic at the Akola Government Medical College, Akola, Maharashtra State, India, a cross-sectional assessment of 91 patients with sickle cell disease was performed during one week in March 2015.

Results: Of the 91 patients, there were 49 with SS disease, 36 with sickle cell-beta thalassemia, and 6 with sickle cell-HbD Punjab. Alpha globin gene deletions occurred in only 8/49 (16 %) SS disease but fetal hemoglobin (HbF) levels were markedly elevated with mean and median of 24.4 %; all except 3 SS disease patients had the Xmn1(+/+) polymorphism consistent with the Asian haplotype. Among the 36 patients with sickle cell-beta thalassemia, 25 (69 %) had the severe beta(+) mutation, IVS1-5 G > C, and seven other molecular mutations, all beta(o) occurred in the other 11 patients. Many patients had a relatively severe clinical course. Comparison of SS disease and sickle cell-beta thalassemia showed no differences in the prevalence of dactylitis, bone pain crisis, acute chest syndrome, hemoglobin level, reticulocyte counts or hydroxyurea usage but patients with sickle cell-beta thalassemia had significantly more blood transfusions, and greater frequencies of splenomegaly and hepatomegaly.

Conclusions: Many patients in central India have relatively severe manifestations. This may result from lower frequencies of alpha thalassemia and more frequent severe sickle cell-beta(+) thalassemia. There is a need for assessment of the indications and policies for blood transfusion and for hydroxyurea.