Sickle Cell Research Project

Burla, India

Sickle Cell Research Project

Burla, India
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Patel D.K.,Veer Surendra Sai Medical College | Mashon R.S.,Indian Council of Medical Research ICMR | Patel S.,Sickle Cell Research Project | Das B.S.,Institute of Life science | And 2 more authors.
Hemoglobin | Year: 2012

There are several questions pertaining to dosage, duration and potential long-term toxicity of hydroxyurea (HU) therapy. Use of HU is extremely limited in eastern India because of its high cost and apprehension of its toxicities. We undertook this study to assess the clinical, biochemical and hematological efficacy of minimal dose HU (10 mg/kg/day) in 118 sickle cell anemia patients (27 pediatric and 91 adults). The frequency of painful crises reduced significantly in 71.5 and 92.2 in pediatric and adult cases, respectively. Ninety-five percent of the patients became transfusion independent. The baseline Hb F, total hemoglobin (Hb), MCV, MCH and MCHC levels increased significantly, whereas the WBC, platelet count and total serum bilirubin values decreased significantly. This is the first study of minimal dose HU therapy in eastern India that showed impressive improvement in clinical and hematological parameters with minimal toxicity. © 2012 Informa Healthcare USA, Inc.


Patel D.K.,Sickle Cell Research Project | Patel M.,Sambalpur University | Mashon R.S.,Indian Council of Medical Research ICMR | Patel S.,Sickle Cell Research Project | And 2 more authors.
Hemoglobin | Year: 2010

Fetal hemoglobin (Hb F) is the most studied modifier of sickle cell disease. Coinheritance of high Hb F determinants such as δβ- thalassemia (δβ-thal) and hereditary persistence of fetal hemoglobin (HPFH) can contribute to raised Hb F concentration in these patients. One hundred and seventy-six cases of sickle cell disease with high Hb F were screened for the presence of the Asian Indian deletion-inversion Gγ( Aγδβ) 0-thal and HPFH-3 (Indian, 48.5 kb) disorders. Three cases from two unrelated families were found to have sickle cell disease and the ( Aγδβ) 0-thal genotype. Three other members had heterozygous Gγ( Aγδβ) 0-thal. None had HPFH-3. Despite very high Hb F concentrations and linkage of the β S gene to Asian haplotypes, the compound heterozygotes had severe clinical presentation, possibly because of heterocellular distribution of Hb F. In conclusion, these high Hb F determinants are not common causes of high Hb F in Indian sickle cell disease patients. © 2010 Informa Healthcare USA, Inc.


Patel D.K.,Sickle Cell Research Project | Mashon R.S.,Indian Council of Medical Research ICMR | Patel S.,Sickle Cell Research Project | Dash P.M.,Sickle Cell Research Project | Das B.S.,Indian Council of Medical Research ICMR
Hemoglobin | Year: 2010

Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelated Agharia families. Twelve cases were Hb S [β6(A3)Glu→Val]/Hb D-Punjab compound heterozygotes and 13 were Hb D trait carriers. In 76.0% of the cases, the β D gene was linked to haplotype I, whereas 24.0% had a novel haplotype. None of the haplotypes matched the β A haplotype of the local population. In view of the ancestral origin of the subjects and the high prevalence of the β D gene in the states of northern India, we suggest a North Indian origin for the β D mutation in our population. The finding of a novel haplotype in eastern India supports the hypothesis of a multicentric origin of this mutation. © 2010 Informa Healthcare USA, Inc.


PubMed | Sickle Cell Research Project
Type: Journal Article | Journal: Hemoglobin | Year: 2010

Hb D-Punjab [121(GH4)GluGln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelated Agharia families. Twelve cases were Hb S [6(A3)GluVal]/Hb D-Punjab compound heterozygotes and 13 were Hb D trait carriers. In 76.0% of the cases, the (D) gene was linked to haplotype I, whereas 24.0% had a novel haplotype. None of the haplotypes matched the (A) haplotype of the local population. In view of the ancestral origin of the subjects and the high prevalence of the (D) gene in the states of northern India, we suggest a North Indian origin for the (D) mutation in our population. The finding of a novel haplotype in eastern India supports the hypothesis of a multicentric origin of this mutation.


PubMed | Sickle Cell Research Project
Type: Case Reports | Journal: Hemoglobin | Year: 2010

Fetal hemoglobin (Hb F) is the most studied modifier of sickle cell disease. Coinheritance of high Hb F determinants such as -thalassemia (-thal) and hereditary persistence of fetal hemoglobin (HPFH) can contribute to raised Hb F concentration in these patients. One hundred and seventy-six cases of sickle cell disease with high Hb F were screened for the presence of the Asian Indian deletion-inversion (G)((A))-thal and HPFH-3 (Indian, 48.5 kb) disorders. Three cases from two unrelated families were found to have sickle cell disease and the ((A))-thal genotype. Three other members had heterozygous (G)((A))-thal. None had HPFH-3. Despite very high Hb F concentrations and linkage of the (S) gene to Asian haplotypes, the compound heterozygotes had severe clinical presentation, possibly because of heterocellular distribution of Hb F. In conclusion, these high Hb F determinants are not common causes of high Hb F in Indian sickle cell disease patients.

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