A 25-yr-old Indian (Asiatic) woman investigated for a life-long anemia was found to have a hitherto undescribed structural hemoglobin variant gIn which was found independently and designated Hb D Iran by Rahbar in members of a family from Iran. In the present case, Hb D Iran was found in association with high A2 thalassemia. The replacement of glutamic acid by glutamine at fi 22 (helical residu...

The high incidence of double-gene deletions in α-thalassemia increases the risk of having pregnancies with homozygous α0-thalassemia, the cause of the lethal hemoglobin (Hb) Bart’s hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, current gap-PCR based PGD protocol for deletional α-thalassemia required specific prim...

BACKGROUND β-thalassemia is the most common monogenic disorder in human. The (C-->T) polymorphism at -158 upstream region of the γG-globin gene and pharmacological factors such as hydroxyurea have been reported to influence γ-globin gene expression and the severity of clinical symptoms of β-thalassemia. METHODS In the present study, 51 β-thalassemia intermediate patients were studied. Xmn1γG ...

The alpha globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall alpha thalassemia gene frequency is 0.29, most frequently caused by the -alpha 3.7 and -alpha 4.2 deletions. In one family a novel -alpha 3.5 deletion removing the alpha 1 globin gene with some of its flanking sequences has been found, suggesting further sequence homology of the alpha globin gen...

The phenotypic and molecular diversity of compound heterozygosity for thalassemic genes in Greece is extensive. The interaction of silent and classic β-thalassemia results in the clinical phenotype of thalassemia intermedia. We report the clinical and hematological findings in an 18-year-old female referred to our hemoglobinopathy prevention unit that was observed to be compound heterozygote fo...

HbA2' (also called Hb B2) is the most common delta-globin chain defect and is reported to occur in 1-2% of the African American population. The major clinical significance of HbA2' is that the failure to detect it might lead to an underestimation of the total HbA2, leading to failure to diagnose β-thalassemia minor. In order to diagnose β-thalassemia minor, both HbA2 and HbA2' levels must be co...

this a case report of an iranien jewish young women, who had hypochromic anemia inspitc of incrcscd medullary iron.. this finding lead to the discovery of hb h in one of her sister's and one of her daughters, who (like beta thalassemia trait), but presence of hb h in her sister and daughter, and presence of minimum quantities of bart's hb in her sister.

The plasma clot culture system was utilized to support the growth of erythroid-committed stem cells from the bone marrow of five patients with homozygous -thalassemia and the peripheral blood of one patient doubly heterozygous for j9#{176}-thalassemia and Hb Lepore. Addition of erythropoietin to the cultures resulted in abundant colony growth (76-185 CFU-E and 3.5-11 BFU-E/6 x i0 bone marrow ce...

The hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia are heterogeneous disorders characterised by increased levels of fetal hemoglobin and high level of this Hb continues in adulthood. The distinction between these two conditions is not always possible with routine hematologic analysis and molecular characterisation of the defect is required. We encountered such a ra...

Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β0-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β0-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52...