J Korean Med Assoc.  2006 Oct;49(10):908-919. 10.5124/jkma.2006.49.10.908.

Hereditary Hemolytic Anemia

Affiliations
  • 1Department of Pediatrics, Yeungnam University College of Medicine, Korea. johah@med.yu.ac.kr

Abstract

The hereditary hemolytic anemia (HHA) can be classified into three types according to the pathogenesis: RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics of these three types of HHA are presented briefly in this paper. In Korea, HHA due to RBC membrane defect such as hereditary spherocytosis had been relatively well recognized, while HHA due to hemoglobinopathies and RBC enzymopathies had been considered rare. However, with the recent development of molecular testing, beta thalassemia, G6PD and pyruvate kinase deficiency have been reported with identification of disease-causing mutations. If a patient with microcytic hypochromic anemia shows unproportionally low MCV or MCH or refractory to iron therapy, hemoglobin electrophoresis and gene study for thalassemia or other unstable hemoglobinopathies are needed. It should be noted that the recent population migration to Korea from the regions where hemoglobinopathies or enzymopathies are prevalent warrants considering a broad spectrum of etiologies for the diagnosis of HHA.

Keyword

Hereditary hemolytic anemia; RBC membrane defect; Hemoglobinopathy; RBC enzymopathy

MeSH Terms

Anemia, Hemolytic, Congenital*
Anemia, Hypochromic
beta-Thalassemia
Diagnosis
Electrophoresis
Hemoglobinopathies
Humans
Iron
Korea
Membranes
Pyruvate Kinase
Thalassemia
Iron
Pyruvate Kinase

Cited by  1 articles

Hereditary Hemolytic Anemia in Korea: a Retrospective Study from 1997 to 2006
Hee Soon Cho, Jeong Ok Hah, Im Ju Kang, Hyung Jin Kang, Jae Yong Kwak, Hong Hoe Koo, Hoon Kook, Byoung Kook Kim, Soon Ki Kim, Seung Taik Kim, Young-Dae Kim, Ji Yoon Kim, Chul Soo Kim, Thad Ghim, Heung Sik Kim, Sang Gyu Park, Seon Yang Park, Jun Eun Park, Soo-Mee Bang, Jong Jin Seo, Chang In Suh, Sang Kyun Sohn, Ho-Jin Shin, Hee-Young Shin, Hyo Sup Ahn, Doyeun Oh, Eun Sun Yoo, Chuhl Joo Lyu, Sung-Soo Yoon, Kun Soo Lee, Kwang Chul Lee, Kee Hyun Lee, Soon Yong Lee, Young Ho Lee, Jung-Ae Lee, Jong Seok Lee, Young Tak Lim, Jae Young Lim, Ho Joon Im, Dae Chul Jeong, So Young Chong, Joo Seop Chung, Hye Lim Jung, Goon Jae Cho, Deog Yeon Jo, Jong-Youl Jin, Eun Jin Choi, Myung Soo Hyun, Pyung Han Hwang
Korean J Hematol. 2007;42(3):197-205.    doi: 10.5045/kjh.2007.42.3.197.


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