Polycythaemia vera (PV) can be defined as a myeloproliferative neoplasm (MPN) with erythrocytosis and JAK2V617F (or an equivalent marker of clonality). While these simple criteria are sufficient for most cases of overt PV, an estimated 10–15% of PV patients do not have an elevated haemoglobin concentration (Hb) and may mimic JAK2-positive essential thrombocythaemia (ET). This poses a problem fo...

INTRODUCTION Haemoglobin (Hb) E beta-thalassaemia is a common thalassaemic disorder in Southeast Asia and is very common in the eastern and north-eastern parts of India. The disease cause rapid erythrocyte destruction due to the free radical mediated injury but factors for the oxidative injury are not clearly known. We investigated the free reactive iron (non-haem) mediated insult in Hb E beta-...

Hemangioblastoma (HB) of the central nervous system may occur sporadically or in association with von Hippel-Lindau (VHL) disease. Disseminated HB means malignant spread of the original primary HB without local recurrence at surgically resected site. It has been rarely reported previously, and rarer especially without VHL gene mutation. We report a case of disseminated HB without VHL disease. A...

As soon as an abnormal globin was found to cause sickle cell disease, scientists began looking for other variations. Samples were readily available from donors or from blood samples collected for medical tests. Within a few years, many alterations were identified; some changed the alpha globin amino acid sequence and others altered the beta chain. Most of the new alleles were named for the loca...

BACKGROUND Neonatal screening programs for sickle cell disease are now widespread in North American and European countries. Most programs apply isoelectric focusing or HPLC to detect hemoglobin variants. Because tandem mass spectrometry (MS/MS) is being used for screening of inherited metabolic disorders and allows protein identification, it was worth testing for hemoglobinopathy screening. M...

In clonal cultures of erythroid burst-forming units (BFU-E) obtained from blood, the accumulation of fetal and adult hemoglobins (Hb F and Hb A) was measured by radioligand immunoassay. Inclusion of adherent mononuclear cells in the culture promoted a striking increase in the relative amount of Hb F in each of 44 experiments with 14 donors. In two-thirds of the instances, this was accounted for...

OBJECTIVE The spectrum of α-thalassemias correlates well with the number of affected α-globin genes. Additionally, combinations of the several non-deletional types of mutations with a large trans deletion comprising the 2 α-globin genes have an impact on the clinical severity. The objective of this study was to analyze the hematological and molecular data of 35 patients with Hb H disease from a...

In this study various abnormal haemoglobin fractions on HPLC were observed in 158 cases out of the total 300 screened paediatric anaemic cases. Of the 300 paediatric cases, samples analyzed on CE-HPLC for haemoglobinopathies, maximum 67 (22.33%) cases were diagnosed as S-β double heterozygous, 39(13%) as sickle cell trait, 27 (9 %) as β-thalassaemia major, 10 (3.33 %) as sickle cell disease, 05...

Erythrocyte superoxide dismutase activities were measured in 45 subjects, 15 each of beta 0-thalassaemia/haemoglobin (Hb) E disease, Hb H disease, and normal. The erythrocyte superoxide dismutase activities were significantly higher in the patients with beta 0-thalassaemia/Hb E and Hb H diseases than in the normal subjects. The increase of erythrocyte superoxide dismutase activities is most lik...

Genetic factors influencing Hb F content in adult red blood cells include β-thalassemia genotypes, co-inheritance of α-thalassemia traits and single nucleotide polymorphisms (SNPs). Genotyping of α- and β-thalassemia and five SNPs in β-globin gene cluster previously identified in genome-wide association studies as being markers of elevated Hb F in β-thalassemia were performed in 81 subjects dia...