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Updated: Mar 23, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Sickle Cell Disease in Central India: A Potentially Severe Syndrome
Dipty Jain1,2, Vinit Warthe3, Paridhi Dayama3
1Department of Pediatrics, Akola Government Medical College, Akola, Maharashtra, India. dipty47@rediffmail.com.
Insights
Sickle cell disease in central India presents with severe manifestations, possibly due to lower alpha thalassemia rates and more frequent severe sickle cell-beta(+) thalassemia. Further research on transfusion and hydroxyurea is needed.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Sickle cell disease (SCD) is a genetic blood disorder with diverse clinical presentations.
- Understanding regional variations in SCD genotypes and phenotypes is crucial for effective management.
Purpose of the Study:
- To investigate the clinical, hematological, and molecular characteristics of sickle cell disease in pediatric patients in central India.
- To compare features between sickle cell disease (SS) and sickle cell-beta thalassemia.
Main Methods:
- A cross-sectional study of 91 pediatric patients with sickle cell disease was conducted at a clinic in Akola, Maharashtra, India.
- Patients were assessed for clinical manifestations, hematological parameters, and molecular features, including globin gene deletions and specific mutations.
Main Results:
- Homozygous sickle cell disease (SS) patients showed elevated fetal hemoglobin (HbF) and Asian haplotype polymorphism (Xmn1(+/+)).
- Sickle cell-beta thalassemia patients frequently carried the severe beta(+) mutation (IVS1-5 G>C) and experienced more splenomegaly and hepatomegaly.
- Both SS disease and sickle cell-beta thalassemia groups had similar rates of dactylitis, pain crises, and acute chest syndrome, but sickle cell-beta thalassemia required more blood transfusions.
Conclusions:
- Patients in central India often exhibit severe sickle cell disease manifestations.
- Lower frequencies of alpha thalassemia and a higher prevalence of severe sickle cell-beta(+) thalassemia may contribute to disease severity.
- There is an identified need to evaluate transfusion policies and hydroxyurea use in this population.
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.
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