Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.

Abstract

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 (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.

• Authors: Dewi Megawati, Ita M Nainggolan, Maria Swastika, Susi Susanah, Johanes C Mose, Alida R Harahap, Iswari Setianingsih
• Journal: Hemoglobin (Hemoglobin) Vol. 38 Issue 2 Pg. 149-51 ( 2014) ISSN: 1532-432X [Electronic] England
• PMID: 24351118 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon
• Hemoglobins, Abnormal
• hemoglobin Adana
• Hemoglobin A2

Topics

• Adult
• Base Sequence
• Child
• Codon (genetics)
• DNA Mutational Analysis
• Family Health
• Female
• Fetal Diseases (diagnosis, genetics)
• Hemoglobin A2 (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Indonesia
• Male
• Pedigree
• Point Mutation
• Pregnancy
• Prenatal Diagnosis
• alpha-Thalassemia (diagnosis, genetics)
• beta-Thalassemia (diagnosis, genetics)