[PDF][PDF] Abnormal hemoglobins in Turkey

Ç Altay - Turk J Haematol, 2002 - jag.journalagent.com
The presence of HbS was reported in Turkey for the first time in the late fifties by Aksoy et al.
This was followed by other reports by the same author revealing the presence of several …

Molecular analysis of a Thai β-thalassaemia heterozygote with normal haemoglobin A2 level: implication for population screening

S Fucharoen, G Fucharoen… - Annals of clinical …, 2002 - journals.sagepub.com
Background This study aimed to characterize the molecular basis of a β-thalassaemia
heterozygote who had a normal haemoglobin A2 level. Methods Using haematological and …

Detection of alpha-thalassemia in beta-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening

D Li, C Liao, J Li, X Xie, Y Huang, H Zhong - Haematologica, 2006 - haematologica.org
The aim of this study was to detect alpha-thalassemia in beta-thalassemia carriers during
prenatal screening. During a 12-year prenatal screening program, a total of 158 couples …

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

MD Angioletti, G Lacerra, C Gaudiano… - Human …, 2002 - Wiley Online Library
We characterized mutations and haplotypes of the δ‐globin gene (HBD, MIM# 142000) in
two regions of southern Italy. Mutations were discovered by screening for individuals with Hb …

Bias-corrected diagnostic performance of the naked eye single tube red cell osmotic fragility test (NESTROFT): An effective screening tool for β-thalassemia

M Mamtani, A Jawahirani, K Das, V Rughwani… - …, 2006 - Taylor & Francis
It is being increasingly recognized that a majority of the countries in the thalassemia-belt
need a cost-effective screening program as the first step towards control of thalassemia …

Co-inheritance of α-and β-thalassemia in Khuzestan Province, Iran

F Rahim, B Kaikhaei, K Zandian, A Hoseini - Hematology, 2008 - Taylor & Francis
Background and aims: β-thalassemia is one of the most frequent hemoglobinopathies and
single gene disorders in Iran. About 13 β globin mutations encompass 70–90% of mutations …

Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension

B Atanasovska, G Bozhinovski… - PLoS …, 2012 - journals.plos.org
β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary
abnormalities in humans. Molecular characterization of the causative genetic variants is an …

Hb Knossos (HBB: c. 82G> T), β-globin CD 5 (− CT)(HBB: c. 17_18delCT) and δ-globin CD 59 (− a)(HBD: c. 179delA) mutations in a Syrian patient with β-thalassemia …

F Moassas, MS Nweder, H Murad - BMC pediatrics, 2019 - Springer
Background Beta thalassemia (β-thal) is an inherited hemoglobin disorder characterized by
reduced synthesis of the hemoglobin that results in microcytic hypochromic anemia. β …

Combination of Hb Knossos [Cod 27 (GT)] and IVSII-745 (CG) in a Turkish patient with beta-thalassemia major

I Keser, E Manguoglu, O Kayisli, A Yesilipek… - Genetic Testing, 2007 - liebertpub.com
Beta-thalassemia is the most common disease among hemoglobinopathies in Antalya,
Turkey, as well as world-wide. Mutations found in Turkish beta-thalassemia patients …

A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels

T Karakaya, F Silan, O Ozdemir - Hemoglobin, 2022 - Taylor & Francis
Hemoglobinopathies are the most common single-gene disorders, and β-thalassemia (β-
thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is …