Genetic diagnosis for congenital hemolytic anemia

Research output: Contribution to journalArticle

Abstract

Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

Original languageEnglish
Pages (from-to)1908-1912
Number of pages5
Journal[Rinsho ketsueki] The Japanese journal of clinical hematology
Volume57
Issue number10
Publication statusPublished - Jan 1 2016

Fingerprint

Congenital Hemolytic Anemia
Erythrocytes
Anemia
Hemolytic Anemia
Genetic Phenomena
Thrombotic Thrombocytopenic Purpura
Hemoglobinopathies
Cholelithiasis
Globins
Germ-Line Mutation
Disseminated Intravascular Coagulation
Splenomegaly
Mutation Rate
Hemolysis
Jaundice
Genes
Membrane Proteins
Cell Membrane
Phenotype

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Genetic diagnosis for congenital hemolytic anemia. / Ohga, Shoichi.

In: [Rinsho ketsueki] The Japanese journal of clinical hematology, Vol. 57, No. 10, 01.01.2016, p. 1908-1912.

Research output: Contribution to journalArticle

@article{e50e9dd9c4b54e59aebfd670168a435f,
title = "Genetic diagnosis for congenital hemolytic anemia",
abstract = "Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.",
author = "Shoichi Ohga",
year = "2016",
month = "1",
day = "1",
language = "English",
volume = "57",
pages = "1908--1912",
journal = "[Rinsho ketsueki] The Japanese journal of clinical hematology",
issn = "0485-1439",
publisher = "Nihon Rinsho Ketsueki Gakkai/Japan Society of Clinical Hematology",
number = "10",

}

TY - JOUR

T1 - Genetic diagnosis for congenital hemolytic anemia

AU - Ohga, Shoichi

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

AB - Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

UR - http://www.scopus.com/inward/record.url?scp=85011965434&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85011965434&partnerID=8YFLogxK

M3 - Article

C2 - 27725587

AN - SCOPUS:85011965434

VL - 57

SP - 1908

EP - 1912

JO - [Rinsho ketsueki] The Japanese journal of clinical hematology

JF - [Rinsho ketsueki] The Japanese journal of clinical hematology

SN - 0485-1439

IS - 10

ER -