We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA...

Hemoglobin (Hb) Suan-Dok (a1osAr9) is a rare a-globin structural mutation that is linked to an a-thalassemia (a-thal) determinant. When inherited in trans to an a-thal-I mutation (-1, it results in Hb H disease associated with low levels (9%) of the Suan-Dok Hb. The nature of the thalassemic defect associated with the as’ mutation has been investigated by structural and functional studies. Sequ...

Hemoglobin (Hb) G-Chinese [α30 (B11) Glu↷Gln], also known as Hb G-Honolulu, Hb G-Hongkong or Hb G-Singapore, was first identified in a Chinese woman in Singapore, and was subsequently observed in several Chinese families. This Hb variant results from a GAG↷CAG mutation at codon 30 of the α-globin gene. The aim of the present study was to identify the Hb G-Chinese mutation in three Cantonese ind...

Received/Geliş tarihi : January 20, 2014 Accepted/Kabul tarihi : April 18, 2014 To the Editor, Hemoglobin Jabalpur [beta 3(NA3) Leu>Pro] is a rare hemoglobin variant previously described in the HBVar database of the Globin Gene Server [1]. In the present paper we report Hb Jabalpur identified in a Turkish family. This is the first report of Hb Jabalpur in the Turkish population. The patient was...

Background: Hemoglobinopathies are the commonest single gene disorder in human that affect hemoglobin production and function that occur when mutations alter the amino acid sequence of globin chains. The purpose of the present study was to evaluate the prevalence of hemoglobninopathies detected by capillary electrophoresis method in individuals referred to Masjed-Soleiman health centers by capi...

Hemoglobin H-constant spring (Hb H-CS), the most common nondeletional alpha thalassemia in Asia is increasingly recognized in North America due to shifts in immigration patterns. In California, alpha (a)thalassemia syndromes are the second most frequent finding among newborns screened for hemoglobinopathies with a two-fold increase compared to a decade earlier [1,2]. Though known to have a more...

Coinheritance of α-thalassemia and hemoglobin E (Hb E) is prevalent in Thailand, where the gene frequencies of thalassemia and hemoglobinopathies are high. Hb E carriers with, concomitant inheritance of α-thalassemia 1 are known to have a lower level of Hb E. In this study, we reviewed the Hb E levels in Hb E carriers, who either had or did not have Southeast Asian (SEA)-type α-thalassemia, in ...

BACKGROUND Red cell inherited hemoglobin (Hb) anomalies are commonly encountered in the central region of India. These cause a public health concern due to high level of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. PURPOSE To report five typical families of Hb E disorders for the first time detected and identified from various districts of the ...