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Journals / Turkish Journal of Hematology / 2014 / Cilt: 31 - Sayı: 3

Beta Talasemili Hasta ve Sağlam Türk Çocuklarında C282Y HFE Gen Mutasyonunun Araştırılması: Ön Çalışma

Survey of HFE Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study

SELMA ÜNAL
Günay BALTA
FATMA GÜMRÜK
Pages
272–275
DOI
—
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AI Insight
⚡ TL;DR(Too Long; Didn't Read)

However, research on larger cohorts of individuals is required in order to determine the exact prevalence of the HFE gene mutation in Turkish populations from diverse ethnic origins and whether it would have an impact on iron loading in thalassemic populations

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Objective & Hypothesis:Objective: This study was planned in order to determine the effect of C282Y mutation in development of secondary hemochromatosis in beta-thalassemia patients and to determine the prevalence and allele frequency of this mutation in a healthy control group.Materials and Methods:Eighty-seven children and young adults (46 males and 41 females; mean age: 15.6±6.1 years, range: 3-30 years) with beta-thalassemia major (BTM) and 13 beta-thalassemia intermedia (BTI) patients (6 males and 7 females; mean age: 19.6±3.5 years, range: 13-26 years) were included in the study.
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Key Findings & Data:The control group comprised 100 healthy blood donors.Results:Neither heterozygous nor homozygous HFE gene C282Y mutation was detected in patients with BTM or BTI, or in control group.Conclusion:The C282Y mutation, which is supposed to be responsible for the majority of hereditary hemochromatosis, was not found to have a role in the development of hemochromatosis in beta-thalassemia patients and was not detected in a healthy Turkish population.
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Conclusion & Impact:However, research on larger cohorts of individuals is required in order to determine the exact prevalence of the HFE gene mutation in Turkish populations from diverse ethnic origins and whether it would have an impact on iron loading in thalassemic populations
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: This study was planned in order to determine the effect of C282Y mutation in development of secondary hemochromatosis in beta-thalassemia patients and to determine the prevalence and allele frequency of this mutation in a healthy control group.Materials and Methods:Eighty-seven children and young adults (46 males and 41 females; mean age: 15.6±6.1 years, range: 3-30 years) with beta-thalassemia major (BTM) and 13 beta-thalassemia intermedia (BTI) patients (6 males and 7 females; mean age: 19.6±3.5 years, range: 13-26 years) were included in the study. The control group comprised 100 healthy blood donors.Results:Neither heterozygous nor homozygous HFE gene C282Y mutation was detected in patients with BTM or BTI, or in control group.Conclusion:The C282Y mutation, which is supposed to be responsible for the majority of hereditary hemochromatosis, was not found to have a role in the development of hemochromatosis in beta-thalassemia patients and was not detected in a healthy Turkish population. However, research on larger cohorts of individuals is required in order to determine the exact prevalence of the HFE gene mutation in Turkish populations from diverse ethnic origins and whether it would have an impact on iron loading in thalassemic populations

Özet

Amaç:Herediter hemokromatozisin büyük bir kısmından sorumlu tutulan C282Y mutasyonunun beta talasemili hastalarda gelişen sekonder hemokromatozisdeki arttırıcı rolünü belirlemek ve bu mutasyonun, sağlıklı kontrol grubunda prevalansını ve allel sıklığını göstermek. Gereç ve Yöntemler:Kırk biri kız, 46'si erkek (ortanca yaş: 15,6±6,1, yaş aralığı: 3-30 yaş) toplam 87 Beta talasemi major ve 13 Beta talasemi intermedialı hasta (6 erkek, 7 kız, ortanca yaş: 19,6±3,5, yaş aralığı: 13-26) çalışmanın hasta grubunu oluşturdu. Kontrol grubu olarak 100 sağlıklı birey çalışmaya dahil edildi.Bulgular: Ne Beta talasemili hasta ne de sağlıklı bireyde homozigot yada heterezigot C282Y mutasyonu tespit edilemedi.Sonuç:Herediter hemokromatozis gelişiminde önemli bir faktör olarak düşünülen C282Y mutasyonu, sağlıklı Türk popülasyonu ve Beta talasemili hastalarda hemokromatozis gelişimi için arttırıcı bir faktör olarak bulunamamıştır. Bu konuda daha geniş katılımlı çalışmaların yapılmasına gerek olup, demir metabolizmasından sorumlu olan diğer düzenleyici protein gen mutasyonlarının da sekonder hemokromatozisi olan beta talasemili hastalarda araştırılması gerektiği düşünülmektedir.

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Cite This Article

ÜNAL, S., BALTA, G., GÜMRÜK, F. (2014). Beta Talasemili Hasta ve Sağlam Türk Çocuklarında C282Y HFE Gen Mutasyonunun Araştırılması: Ön Çalışma. Turkish Journal of Hematology, Cilt: 31 - Sayı: 3, 272–275. https://ajindex.com/articles/412536

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