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  • genetic
  • The thalassemias are among the most common genetic diseases worldwide. (encyclopedia.com)
  • Variation of postnatal γ globin expression and HbF production in these patients was thought to be one of the main genetic factors responsible for clinical heterogeneity found in Hb E/ β thalassemia by reducing globin imbalance and ameliorating ineffective erythropoiesis. (hindawi.com)
  • Note that since there are many different alleles of αo and α+ thalassaemia, genetic counselling may be more complex than outlined in this simple model. (snpedia.com)
  • Total or partial absence of HBB causes a genetic disease called beta thalassemia. (wikipedia.org)
  • patients
  • These complications are mostly found in thalassemia major and intermedia patients. (wikipedia.org)
  • Contrary to that, only half of the patients with thalassemia have an augmented RDW. (symptoma.com)
  • 13 in patients that have inherited thalassemia . (symptoma.com)
  • Hemoglobin abnormalities usually need supportive care in patients with HbB disease. (symptoma.com)
  • Patients generally need a few transfusion sessions throughout their lives, as hemoglobin levels fluctuate between the values of 7 to 10 g/dL. (symptoma.com)
  • Patients with alpha thalassemia must be closely monitored to detect a possible iron deficiency , for which they may be treated with iron supplements if necessary, although this treatment does not lead to improved blood test results. (symptoma.com)
  • In contrast, patients with HbE/ β thalassemia have a more diverse clinical phenotype from transfusion dependent to very mild disease [ 2 - 5 ]. (hindawi.com)
  • Although, understanding of clinical phenotypic diversity in patients with Hb E/ β thalassemia has long been a topic of several investigations, at present, the genotype-phenotype correlation of this so-called single gene disorder remains obscure. (hindawi.com)
  • Also, a Phase 1 clinical trial for in utero hematopoietic stem cell transplantation for alpha thalassemia major is recruiting prenatally diagnosed patients to investigate safety and feasibility. (wikipedia.org)
  • unstable
  • Heinz Bodies at the US National Library of Medicine Medical Subject Headings (MeSH) "Unstable Hemoglobins: The Role of Heme Loss in Heinz Body Formation" Jacon, Harry and Winterhalter, Kaspar, Proceedings of the National Academy of Sciences, Vol. 64, No3, pp. 697-701, March 1970 synd/658 at Who Named It? (wikipedia.org)
  • It is quite unstable, more so than even hemoglobin Gower 1, and breaks down very rapidly under stress. (wikipedia.org)
  • Hemoglobinopathies
  • Hemoglobinopathies -C and E hemoglobins-activate membrane transport to dehydrate the red blood cell, the decrease in volume results in targets. (brainscape.com)
  • Due to its relative stability compared to hemoglobin Gower 1 and hemoglobin S, it has been proposed as a subject for reactivation in the adult in cases of severe β thalassemia and hemoglobinopathies in subjects for which the reactivation of hemoglobin F is contraindicated due to toxicity concerns. (wikipedia.org)
  • Despite this, it has been proposed as a candidate for reactivation in cases of severe α thalassemia or hemoglobinopathies afflicting the alpha chain. (wikipedia.org)
  • abnormal
  • Beside producing abnormal variant, hemoglobin E (HbE), the G→A substitution in codon 26 (Glu→Lys) of the β -globin gene ( β E ) could also produce β + thalassemia due to decreased functional HbE-mRNA, secondary to alternative splicing mechanism [ 1 ]. (hindawi.com)
  • globin gene cluster
  • In a recent study using a more refined SNP analysis of the β globin gene cluster in HbE/ β thalassemia has shown that there was no other variant elsewhere which has a comparable level of association with that of Xmn I site and the T allele ( Xmn I, +) was almost always in cis with the HbE alleles [ 10 ]. (hindawi.com)
  • complications
  • All people with thalassemia are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gallstones. (wikipedia.org)
  • diagnosis
  • The distribution of hemoglobin F among the red blood cells (RBCs) is pancellular in α-thalassemia, but, since it is only rarely heterocellular in HPFH, performing a test to determine the distribution pattern may not contribute to the diagnosis. (thecardiologyadvisor.com)