Annals of Hematology

, Volume 90, Issue 3, pp 357–358 | Cite as

Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family

  • Dilip K. Patel
  • Siris Patel
  • Ranjeet S. Mashon
  • Preetinanda M. Dash
  • Malay B. MukherjeeEmail author
Letter to the Editor

Dear Editor,

Compound heterozygosity for βSC is common in African populations and is associated with remarkable clinical heterogeneity [1]. Although the presence of HbC gene, along with β thalassemia, has been reported from India [2]; however, to the best of our knowledge, this is the first report of sickle cell hemoglobin C (HbSC) disease from India.

A 25-year-old female was referred to us with hemolytic anemia and occasional episodes of painful crisis (0.6 episodes/ year) predominantly in both the lower limbs around the knee joint. On physical examination, the spleen was palpable (2 cm below the left costal margin). Her Hb was 10.3 g/dl, mean cell hemoglobin (MCH), 29.1 pg; mean cell volume (MCV), 79 fl; mean cell hemoglobin concentration (MCHC), 36.8% with a positive sickling test. Automated high-performance liquid chromatography using the β Thalassemia Short Program on Bio-Rad Variant system showed the presence of HbS, 36.1%; HbC, 42.3%; HbA 2, 3.5%, and HbF, 17.9%. Family...


Thalassemia Mean Cell Volume Mean Cell Hemoglobin Concentration Painful Crisis Mean Cell Hemoglobin 
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This work was supported by a grant from the Department of Biotechnology, Government of India, New Delhi, India.


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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Dilip K. Patel
    • 1
  • Siris Patel
    • 1
  • Ranjeet S. Mashon
    • 1
  • Preetinanda M. Dash
    • 1
  • Malay B. Mukherjee
    • 2
    Email author
  1. 1.V.S.S. Medical CollegeBurlaIndia
  2. 2.Hemato-GeneticsNational Institute of Immunohaematology (ICMR)MumbaiIndia

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