A Japanese Family with the Unstable Hb Sydney ( HBB: c.203T>C) Variant and Persistent Low Hemoglobin Oxygen Saturation

Hemoglobin. 2020 Jan;44(1):58-60. doi: 10.1080/03630269.2019.1711115. Epub 2020 Jan 8.

Abstract

Patients with unstable hemoglobin (Hb), caused by a qualitative abnormality in α- and β-globin genes, are often asymptomatic or mildly symptomatic. It is often difficult to diagnose unstable Hb patients with only mild hemolysis or low oxygen saturation. We herein report a case of a family with an unstable Hb, specifically, Hb Sydney (HBB: c.203T>C), an abnormal β-globin chain. A 5-year-old boy was referred to our hospital for low percutaneous oxygen saturation (SpO2) in the setting of bronchitis. During hospitalization, low SpO2 persisted despite the improvement in respiratory distress symptoms. As he had mild hemolysis and splenomegaly, his disease was diagnosed to carry Hb Sydney based on gene analysis. His mother and brother also carried Hb Sydney. In this case, bronchial asthma had been treated, but unstable Hb was not assessed. Low SpO2 may be tolerated and overlooked in cases of asthma and it took time to diagnose this patient. The present case suggests that unstable Hb should be considered in patients with bronchial asthma and prolonged low SpO2.

Keywords: Hb Sydney; hemoglobin (Hb) variant; oxygen saturation; unstable Hb.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hemolytic / diagnosis
  • Anemia, Hemolytic / ethnology
  • Anemia, Hemolytic / genetics*
  • Asian Continental Ancestry Group
  • Asthma / diagnosis
  • Asthma / ethnology
  • Asthma / genetics*
  • Base Sequence
  • Child, Preschool
  • Family
  • Female
  • Gene Expression
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Sequence Analysis, DNA
  • beta-Globins / deficiency
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • beta-Globins