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>Journals >Revista de Hematología >Year 2012, Issue 2


Pandey S, Pandey S, Shah V, Mani MR, Seath T, Saxena R
H63D hereditary hemochromatosis and iron metabolism in Indian sickle cell patients
Rev Hematol Mex 2012; 13 (2)

Language: Español
References: 24
Page: 45-48
PDF: 81.63 Kb.


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ABSTRACT

Background: Hereditary hemochromatosis is an iron metabolism disorder characterized by increased iron absorption and storage. H63D mutation of HFE gene may be associated with iron overload in Indian sickle cell patients.
Objective: determine the prevalence of the H63D mutations and their effect on iron metabolism in Indian sickle cell patients.
Material and Method: Study subjects were sickle cell patients (50 sickle cell anemia and 67 sickle β -thalassemia). One hundred seventy, age and sex matched healthy controls were recruited to compare the frequency of H63D mutation. Complete blood count was measured by automated cell analyzer and quantitative assessment of hemoglobin was performed by high performance liquid chromatography. DNA was extracted from the peripheral blood leucocytes by phenol-chloroform method. HFE gene mutations H63D was determined by PCRRFLP and PCR products were digested with restriction enzymes Bcl-1. Iron studies were done by standard laboratory method. Statistical analysis was performed on EpiInfo statistics software. Yates’ chi-square test was used to assess inter-group significance and t- test used to compares the means of two groups on GraphPad software.
Result: The prevalence of HFE mutation H63D was investigated among 50 sickle cell anemia and 67 sickle β-thalassemia patients. The prevalence of H63D was statistically significant in the group (p-value, ± 0.004 and ± 0.057). Serum iron in the H63D group were higher in comparison to without H63D group of patients (p-value ‹001).
Conclusion: H63D mutation present significantly and associated with increased iron absorption and low iron metabolism in Indian sickle cell patients.


Key words: HFE, SCD, H63D, Hemochromatosis.


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