Rare Diseases Symptoms Automatic Extraction

Phenotypic effect of α-globin gene numbers on Indian sickle β-thalassemia patients.


Sickle cell β-thalassemia is a compound heterozygous state of β-thalassemia and sickle cell anemia. Patient with these conditions showed mild-to-severe clinical phenotype.The objective of this study was to evaluate the effects of α-globin gene numbers on the phenotype of sickle cell β-thalassemia patients.Seventy-five sickle cell β-thalassemia patients were characterized. Clinical, hematological, and molecular characterization was performed in all subjects. Amplified refectory mutation system-polymerase chain reaction was applied for β-thalassemia mutation study while α-genotyping was conducted by Gap-PCR.Highest frequency of IVS1-5 (33 out of 75 patients) β-thalassemia genotype was recorded. Twenty-eight patients were reported with α-globin chain deletion while four had α-triplications (Anti α-3.7kb). Sickle β-thalassemia patients with α-chain deletions ameliorate hematological and clinical variables.This study indicates that the coexistence of α-globin chain deletions showed mild phenotype instead of absence of α-chain deletions while the patients with triplication of α-genes express severe phenotype.

Diseases presenting "severe phenotype" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • harlequin ichthyosis
  • hirschsprung disease
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • oligodontia
  • triple a syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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