Rare Diseases Symptoms Automatic Extraction

Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin.

[alpha-thalassemia]

We report a new silent β-globin gene variant found in a family from Angola living in the north eastern Italian city of Ferrara. The probands, two young sisters, presented with hematological parameters compatible with a β-thalassemia (β-thal) minor but with normal Hb A2 levels and normal hemoglobin (Hb) separation on high performance liquid chromatography (HPLC). Molecular analyses revealed a homozygosity for the common -α(3.7) (rightward) deletion and heterozygosity for a novel transition (GCT > ACT) at codon 135 of the β-globin gene, leading to an Ala → Thr single amino acid substitution that was inherited from the healthy father.

Diseases presenting "high performance" symptom

  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • cystinuria
  • familial hypocalciuric hypercalcemia
  • neonatal adrenoleukodystrophy
  • pyruvate dehydrogenase deficiency

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