Gestational alloimmune liver disease with alpha thalassaemia in a neonate

BMJ Case Rep. 2024 Mar 21;17(3):e257950. doi: 10.1136/bcr-2023-257950.

Abstract

A term baby presented with cholestatic jaundice since birth. She was diagnosed as gestational alloimmune liver disease-neonatal haemochromatosis (GALD-NH) on evaluation. The baby received intravenous immunoglobulin (IVIG) and recovered gradually from the illness. She was also diagnosed with alpha thalassaemia during the course of evaluation, confirmed by genetic testing. NH is a very rare disorder that results in fetal loss or neonatal death due to liver failure. NH is now known to be a phenotypic expression of GALD. Worldwide, NH is seen in less than one in a million pregnancies. The mortality rate of GALD has traditionally been around 80% with almost all babies needing liver transplantation, with advent of maternal and neonatal IVIG treatment, this has reduced significantly. There is no reported case of GALD-NH treated successfully with IVIG from India. Here, we report an interesting case of GALD-NH with alpha thalassaemia.

Keywords: Immunology; Neonatal intensive care.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fetal Diseases*
  • Hemochromatosis* / complications
  • Hemochromatosis* / diagnosis
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Infant, Newborn
  • Infant, Newborn, Diseases*
  • Liver Failure*
  • Pregnancy
  • alpha-Thalassemia* / complications
  • alpha-Thalassemia* / diagnosis

Substances

  • Immunoglobulins, Intravenous

Supplementary concepts

  • Neonatal hemochromatosis