Heterozygosity of H63D and C282Y HFE Genotypes: A Genetic Modifier of Iron Deficiency Anaemia
Journal Title: The Indian Practitioner - Year 2019, Vol 72, Issue 3
Abstract
Introduction: HFE gene is a key regulator of iron hemostasis. In mutant condition it leads to iron overload, but in heterozygous condition it absorbs iron more efficiently than wild type conditions. A balanced polymorphism is one in which the beneficial effect of the heterozygous state balances the deleterious effect of the homozygous state. Thus our objective was to determine the gene frequency of the three HFE mutations and to relate genotypes to various clinical and laboratory variables. Materials & Method: Study subjects were 435 iron deficiency anaemia patients and 560 age and exmatched healthy controls. The complete blood count and red cell indices were measured by an automated cell analyzer (SYSMEX K-4500, Kobe Japan). Serum ferritin level was used to estimate the iron status of patients. Serum ferritin and CRP were measured by ELISA technique while ESR analysis was done according to Wintrobes’s method Results: Among the IDA patients, 19 were heterozygous for H63D mutation. Six IDA patients were heterozygous for C282Y mutation, while S63C mutation was not identified in subjects. Controls were presenting 0.71% H63D homozygous frequency while neither patients nor control were presenting C282Y homozygous mutation. Heterozygous were identified with frequency of 4.46 and 1.6% in H63D and C282Y mutations in controls respectively. Conclusion: Heterozygotes for HFE mutations had a lower prevalence of iron deficiency anaemia, thereby conferring protection against iron deficiency and iron deficiency anemia. Screening for HFE mutations may be useful tool in grading of IDA.
Authors and Affiliations
Sanjay Kumar Pandey, Sweta Pandey, Vineet Shah
Keywords
Related Articles
- EP ID EP490360
- DOI -
- Views 79
- Downloads 0
Prescription monitoring of hypertensive patients referred to hypertension out patient department of a tertiary care hospital, Mumbai.
Introduction: The present study tried to establish the prescribing pattern, rationality of prescriptions and the awareness of patients about hypertension and the medicines given to them. Methods: This study of nine-month...
Pulmonary Alveolar Proteinosis An under diagnosed entity
Pulmonary alveolar proteinosis (PAP) is a rare, congenital or acquired disease characterised by impaired surfactant clearance that leads to accumulation of an amorphous, lipoproteinaceous material in the alveoli, largely...
Common Cold Revisited
The common cold, or upper respiratory tract infection, is one of the leading reasons for physician visits. Its impact on society and health care is large. Rhinoviruses are the most frequent cause. The virus is spread by...
STI/STDs in adolescents: Prevalence, Consequences, Causes & Diagnosis
The prevalence of Sexually Transmitted Infections (STDs) is rising all over the world and also in India. Due to the possible serious consequences in a substantial proportion like infertility, pelvic inflammation or life...
Iodine content and consumption pattern of salt in households of Mehrauli, Delhi
Background Iodine deficiency disorders are a common public health issue in India as well as in various developing countries which can be easily prevented by universalisation of iodated salt ingestion. Salt consumption pa...