A New Mutation, Hb A2-Canakkale [?10(A7)Ala?Val; HBD: c.32C>T], and Other Well-Known ? Variants Identified in a Selected Cohort with Low Hb A2 Levels
[ X ]
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Hemoglobinopathies are the most common single-gene disorders, and beta-thalassemia (beta-thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is obligatory in Turkey, as it is in some other countries. As a result of this mandatory procedure, at routine clinical checkups, many individuals who had undergone premarital screening but did not have any clinical symptoms and/or hematological findings, have compulsorily been required to undergo further evaluation due to abnormal levels of hemoglobin (Hb) fractions (Hb A, Hb A(2) and Hb F). Many consequences, such as mutations in unrelated gene(s) or someone's nutritional status, have been reported to affect the Hb fractions levels. In the present study, we aimed to determine whether HBD has a molecular causative role in patients with low Hb A(2) levels (below 1.8%). The study was conducted with 20 individuals with low Hb A(2) levels who had applied to our outpatient clinic. All DNA samples were analyzed for the HBD gene. Nineteen of the 20 subjects were diagnosed to carry a mutation with one of four different delta-globin variants. Three of them had been described previously [Hb A(2)-Yialousa (HBD: c.82G>T), Hb A(2)-Bornova (HBD: c.350G>C) and Hb A(2)-Yokoshima (HBD: c.77G>A)]. The novel [delta 10(A7)Ala -> Val, HBD: c.32C>T] mutation was defined as a new delta variant and reported to the HbVar database as Hb A(2)-Canakkale. In conclusion, the molecular characterization of Hb A(2) low levels has been suggested to be significant for a definite diagnosis and counseling.
Açıklama
Anahtar Kelimeler
delta-Thalassemia (delta-thal), HBD, low Hb A(2) level
Kaynak
Hemoglobin
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
46
Sayı
2
