A family with εγδβ thalassemia in which the proband was extremely preterm infant with congenital hemolytic anemia

DOI
  • Yonemoto Hiroki
    Department of Neonatology, Maternal and Perinatal Care Center, Oita Prefectural Hospital
  • Nakashima Misaki
    Department of Neonatology, Maternal and Perinatal Care Center, Oita Prefectural Hospital
  • Keida Yumi
    Department of Neonatology, Maternal and Perinatal Care Center, Oita Prefectural Hospital
  • Akaishi Mutsumi
    Department of Neonatology, Maternal and Perinatal Care Center, Oita Prefectural Hospital
  • Iida Kouichi
    Department of Neonatology, Maternal and Perinatal Care Center, Oita Prefectural Hospital

Bibliographic Information

Other Title
  • 先天性溶血性貧血を呈した超早産児が発端者となったεγδβサラセミアの1家系

Search this article

Abstract

<p> The εγδβ thalassemia is a rare form of thalassemia caused by deletion of β-globin gene cluster and its locus control region（LCR）. This disorder exhibits an autosomal dominant inheritance pattern. While some cases develop severe hemolytic anemia during fetal and neonatal period, the anemia goes into spontaneous remission a few months after birth. After infancy, patients exhibit mild β-thalassemia-like symptoms.</p><p> The case was a male infant who was born at 23 weeks of gestation and the birth weight was 602g. He showed a hemoglobin level of 3.6g/dl at birth and was diagnosed congenital hemolytic anemia. During hospitalization, he underwent five red blood cell transfusions and received two laser photocoagulations for retinopathy of prematurity. Both his mother and her sisters had histories of neonatal anemia and had been diagnosed with thalassemia-like syndrome after infancy.</p><p> The deletion that included LCR and a part of β-globin gene cluster was detected by DNA analysis in mother. The family was diagnosed with εγδβ thalassemia.</p><p> Εγδβ thalassemia that can cause congenital anemia is an important hereditary disease in the perinatal period. The onset of anemia may be in the second trimester, so careful fetal and neonatal management including prenatal diagnosis and prevention of preterm birth is recommended.</p>

Journal

Keywords

Details 詳細情報について

Report a problem

Back to top