BACKGROUND Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A₂ (HbA₂) level. METHODS Genomic DNA extraction, ampl...

Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were st...

This is a report of couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male female subjects β α-thalassemia carriers, respectively. Multiplex-Gap-PCR Sanger sequencing techniques used identification mutations β-globin genes. The DNA test showed presence c.315 + 1 G > A mutati...

Hemoglobin (Hb) Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a non-deletional α-thalassemia variant found in Malaysia. An improvement in the molecular techniques in recent years has made identification of Hb Adana much easier. For this study, a total of 26 Hb Adana α-thalassemia intermedia and 10 Hb Adana trait blood samples were collected from patients. Common deletional and non-deletional α...

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...

OBJECTIVE Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation...

Genome editing (GE) is one of the most efficient and useful molecular approaches to correct effects gene mutations in hereditary monogenetic diseases, including β-thalassemia. CRISPR-Cas9 has been proposed for effective correction β-thalassemia mutation, obtaining high-level “ de novo ” production adult hemoglobin (HbA). In addition primary causing β-thalassemia, several reports demonstrate tha...

Hemoglobin Monroe (beta globin G->C, codon 30) is a missense mutation. We could not detect either the mutant peptide or transcript in reticulocyte-enriched preparation and in expanded erythroid progenitor cells. By quantitative gene expression assay beta globin mRNA was found to be reduced by more than 70% in all heterozygous subjects with different haplotypes. We conclude that this mutation al...

T HE HUMAN a-globin gene complex on chromosome 16 consists of two adult a-genes (al and ct2), an embryonic c-gene, and associated pseudogenes.’ Disorders of a-chain synthesis result in diminished (a thalassemia) or absent (a#{176}thalassemia) a-chain production from the affected chromosome. Molecular analysis has revealed ddetion and nondeletion defects of which, unlike the fl-thalassemias, del...