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Journals / Adıyaman Üniversitesi Sağlık Bilimleri Dergisi / 2017 / Cilt: 3 - Sayı: 3

Molecular Diagnostics Methods of Thalassemia and related hemoglobinopathies: Present and Future

Talasemi ve ilgili hemoglobinopatilerin Moleküler Tanı Yöntemleri: Günümüz ve Gelecek

Gülüzar Özbolat
Abdullah Tuli
Pages
599–616
Publication Date
2017-12-15
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this review, we have inform the current standard hematological techniques and diagnostic methods as well as more novel molecular techniques that have become.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Hemoglobinopathies, inherited as autosomal recessive are the most common monogenic disorder.
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Key Findings & Data:Despite the technological advances in mutation detection, hematological and molecular techniques must be used together to achieve accurate diagnosis in the screening of mutations.
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Conclusion & Impact:In this review, we have inform the current standard hematological techniques and diagnostic methods as well as more novel molecular techniques that have become.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Hemoglobinopati · Talasemi · hematolojik ve moleküler teknikler

Abstract

Hemoglobinopathies, inherited as autosomal recessive are the most common monogenic disorder. They are characterized by mutations in the genes encoding the alpha (α) and beta (β) globin chains of the human hemoglobin (Hb) molecule and are broadly classified as abnormal hemoglobin and thalassemia. Several methods are now available for detection of abnormal hemoglobin and thalassemia mutations. Despite the technological advances in mutation detection, hematological and molecular techniques must be used together to achieve accurate diagnosis in the screening of mutations. In this review, we have inform the current standard hematological techniques and diagnostic methods as well as more novel molecular techniques that have become.

Özet

Hemoglobinopati, otozomal resesif geçişli monogenik bozuklukların en sık görülen grubudur. Hemoglobin (Hb) molekülünün alfa (α) ve beta (β) globin zincirlerini kodlayan genlerde mutasyonlar veya delesyonlar ile karakterizedir ve genel olarak anormal hemoglobin ve talasemi olarak sınıflandırılır. Günümüzde, anormal hemoglobin ve talasemi mutasyonların tespiti için çeşitli yöntemler kullanılmaktadır. Mutasyon tespitindeki teknolojik ilerlemelere rağmen, mutasyonların taranmasında doğru tanıya ulaşabilmek için hematolojik ve moleküler tekniklerin birlikte kullanılması gerekir. Bu derlemede, mevcut standart hematolojik teknikler ve tanı yöntemleri ile yeni moleküler teknikler hakkında bilgi verdik.

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Cite This Article

Özbolat, G., Tuli, A. (2017). Molecular Diagnostics Methods of Thalassemia and related hemoglobinopathies: Present and Future. Adıyaman Üniversitesi Sağlık Bilimleri Dergisi, Cilt: 3 - Sayı: 3, 599–616. https://ajindex.com/articles/728142

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