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Prenatal diagnosis and management of homozygous hemoglobin constant spring disease

Sirinart Sirilert1, Pimlak Charoenkwan2, Supatra Sirichotiyakul1

  • 1Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand.

Journal of Perinatology : Official Journal of the California Perinatal Association
|May 18, 2019
PubMed

Insights

Early diagnosis and intrauterine transfusion (IUT) for homozygous hemoglobin constant spring (Hb CS) disease improve fetal anemia and neonatal outcomes. This management may prevent long-term adult diseases.

Area of Science:

  • Hematology
  • Fetal Medicine
  • Genetics

Background:

  • Homozygous hemoglobin constant spring (Hb CS) disease is a severe form of inherited anemia.
  • Fetal anemia can lead to hydrops fetalis and adverse obstetric outcomes.

Purpose of the Study:

  • To describe the fetal management of homozygous hemoglobin constant spring (Hb CS) disease.
  • To evaluate the effectiveness of intrauterine transfusion (IUT) in managing fetal anemia due to Hb CS.

Main Methods:

  • A comprehensive review of six fetuses with homozygous Hb CS undergoing IUT.
  • Analysis of a total of 14 cases, including eight previously reported cases.
  • Monitoring sonographic markers like cardiothoracic ratio (CTR) and middle cerebral artery peak systolic velocity (MCA-PSV).

Main Results:

  • Diagnosis of fetal anemia was indicated by hydropic changes.
  • Increased CTR was a sensitive marker, while MCA-PSV showed the most responsive changes post-IUT.
  • High rates of preterm birth (35.7%), low birthweight (42.9%), and fetal growth restriction (28.6%) were observed.
  • All fetuses responded well to IUT, with resolution of hydropic signs and survival without short-term complications. Anemia improved in childhood, becoming transfusion-independent.

Conclusions:

  • Homozygous Hb CS can cause severe fetal anemia requiring intervention.
  • Early diagnosis and IUT significantly improve neonatal outcomes.
  • Effective fetal management may prevent adult diseases linked to fetal programming.
Abstract

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