Investigation of the clinical and hematological significance of the first observed hemoglobin Ernz variant [?123(H1) Thr>Asn] in the Turkish population

Yükleniyor...
Küçük Resim

Tarih

2012

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Tubitak Scientific & Technological Research Council Turkey

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

Aim: In this report, we aimed to investigate the clinical and hematological significance of the first observed hemoglobin Ernz variant in the Turkish population. Materials and methods: We identified the Hb Ernz variant in 3 nonrelated females (Probands 1, 2, and 3). Proband l's family was also included the study. Hematological data were obtained with an automated cell counter and routine methodology. The beta-globin gene was sequenced by automatic sequencing. Results: Proband 1 was detected as a combination of Hb Ernz/Hb S without any clinical symptoms. Her sister and brother had to be an Hb Ernz/Hb S combination. Her mother and father only showed Hb Ernz and Hb S, respectively. Proband 2 had the Hb Ernz variant with IVS-I 5nt homozygous alpha 2 gene mutation. Proband 3 had a heterozygous Hb Ernz variant. All subjects were clinically and hematologically normal but Proband 2 had low hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, and high red blood cell distribution width levels. Conclusion: In the present study, the Hb Ernz variant is demonstrated for the first time in the Turkish population. Additionally, there is no published report in the world literature of Hb Ernz in combination with IVS-I 5nt homozygote mutation in the alpha-globin gene or Hb S variant. The present report shows that the Hb Ernz variant is not clinically or hematologically significant.

Açıklama

Anahtar Kelimeler

Rare hemoglobin variants, hemoglobin Ernz, DNA sequence analysis

Kaynak

Turkish Journal of Medical Sciences

WoS Q Değeri

Q4

Scopus Q Değeri

Q1

Cilt

42

Sayı

Künye