title: Clinical and hematological presentation among Indian patients with common hemoglobin variants.
abstract: BACKGROUND
  Co-inheritance of structural hemoglobin variants like HbS, HbD(Punjab) and HbE can lead to a variable clinical presentation and only few cases have been described so far in the Indian population.
  
  
  METHODS
  We present the varied clinical and hematological presentation of 22 cases (HbSD(Punjab) disease-15, HbSE disease-4, HbD(Punjab)E disease-3) referred to us for diagnosis.
  
  
  RESULTS
  Two of the 15 HbSD(Punjab) disease patients had moderate crisis, one presented with mild hemolytic anemia; however, the other 12 patients had a severe clinical presentation with frequent blood transfusion requirements, vaso occlusive crisis, avascular necrosis of the femur and febrile illness. The 4 HbSE disease patients had a mild to moderate presentation. Two of the 3 HbD(Punjab)E patients were asymptomatic with one patient's sibling having a mild presentation. The hemoglobin levels of the HbSD(Punjab) disease patients ranged from 2.3 to 8.5 g/dl and MCV from 76.3 to 111.6 fl. The hemoglobin levels of the HbD(Punjab)E and HbSE patients ranged from 10.8 to 11.9 and 9.8 to 10.0 g/dl whereas MCV ranged from 67.1 to 78.2 and 74.5 to 76.0 fl respectively.
  
  
  CONCLUSIONS
  HbSD(Punjab) disease patients should be identified during newborn screening programmes and managed in a way similar to sickle cell disease. Couple at risk of having HbSD(Punjab) disease children may be given the option of prenatal diagnosis in subsequent pregnancies.
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Khushnooma
authors: K
authors: Italia
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Dipti
authors: D
authors: Upadhye
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Pooja
authors: P
authors: Dabke
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Harshada
authors: H
authors: Kangane
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Stacy
authors: S
authors: Colaco
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Pratibha
authors: P
authors: Sawant
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Anita
authors: A
authors: Nadkarni
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Ajit
authors: A
authors: Gorakshakar
authors: Department of Paediatrics, Government Medical College, Nagpur, India.
authors: Dipty
authors: D
authors: Jain
authors: Valsad Raktdan Kendra, Valsad 396001, India.
authors: Yazdi
authors: Y
authors: Italia
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Kanjaksha
authors: K
authors: Ghosh
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. Electronic address: colahrb@gmail.com.
authors: Roshan
authors: R
authors: Colah
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006451:Hemoglobin, Sickle / Q000032:analysis / Q000235:genetics; D006453:Hemoglobinopathies / Q000097:blood* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D008297:Male; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D055815:Young Adult
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab
keywords: HbD(Punjab)E disease; HbSD(Punjab) disease; HbSE disease; Sickle cell anemia