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

Year 2017, , 599 - 616, 15.12.2017

Gülüzar Özbolat , Abdullah Tuli

https://doi.org/10.30569/adiyamansaglik.396211

Cited By: 1

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.

Keywords

Hemoglobinopathy, Thalassemia, hematological techniques, molecular method, diagnostic methods

Talasemi ve ilgili hemoglobinopatilerin Moleküler Tanı Yöntemleri: Günümüz ve Gelecek

Abstract

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.

Keywords

Hemoglobinopati, Talasemi, hematolojik ve moleküler teknikler

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