A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child

GÜRLEK GÖKÇEBAY, Dilek; Akpinar-Tekgunduz, Sibel; ERDEM, Haktan; Yarali, Nese

doi:10.1080/03630269.2019.1660888

A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child

GÜRLEK GÖKÇEBAY D., Akpinar-Tekgunduz S., ERDEM H. B., Yarali N.

Hemoglobin, cilt.43, sa.4-5, ss.277-279, 2019 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 43 Sayı: 4-5
Basım Tarihi: 2019
Doi Numarası: 10.1080/03630269.2019.1660888
Dergi Adı: Hemoglobin
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.277-279
Anahtar Kelimeler: beta-Thalassemia intermedia (beta-TI), exon 3 variation, HBB: c.379delG, p.Val127Cysfs*32
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

We report a de novo heterozygous variant of the β-globin chain that showing a mild β-thalassemia intermedia (β-TI) phenotype. He presented with mild anemia, splenomegaly, reticulocytosis, and poikilocytosis and tear drop cells on the blood smear; Immune mediated hemolysis, red cell membrane and enzyme defects, were excluded; hemoglobin (Hb) electrophoresis showed an elevation of Hb F. Molecular analysis of the β-globin gene showed a heterozygous variation in exon 3 (HBB: c.379delG, p.Val127Cysfs*32) in the absence of an α-globin gene mutation or mutations that modulate Hb F expression.