Hb Madrid [β115(G17)Ala → Pro] in a Korean family with chronic hemolytic anemia

Hemoglobin

Volumn 24, Issue 2, 2000, Pages 133-138

  Kim, J Y ^a,c   Park, Sung Sup ^a,d   Jung, H L ^b   Keum, D H ^b   Park, H ^b   Chang, Y H ^a   Lee, Y J ^a   Cho, H I ^a  

^a Seoul National University Hospital   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Green Cross Company   (South Korea)

^d Seoul National University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN VARIANT; HEMOGLOBIN; HEMOGLOBIN MADRID;

ARTICLE; CLINICAL FEATURE; GENE SEQUENCE; HEMOGLOBINOPATHY; HEMOLYTIC ANEMIA; HUMAN; KOREA; PEDIGREE; SEQUENCE ANALYSIS; ADOLESCENT; ADULT; BLOOD; BLOOD EXAMINATION; BLOOD TRANSFUSION; CHEMISTRY; CHRONIC DISEASE; FAMILY HEALTH; FATHER; GENETICS; MALE; METABOLISM; NUCLEAR FAMILY; NUCLEOTIDE SEQUENCE; SPLENECTOMY;

ADOLESCENT; ADULT; ANEMIA, HEMOLYTIC; BLOOD TRANSFUSION; CHRONIC DISEASE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATHERS; HEMATOLOGIC TESTS; HEMOGLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; KOREA; MALE; NUCLEAR FAMILY; PEDIGREE; SPLENECTOMY;

EID: 0033623707     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630260009003432     Document Type: Article

References (9)

1. Outeirino, J., Casey, R., White, J.M., and Lehmann, H.: Haemoglobin Madrid, β115(G17) Alanine →Proline: an unstable variant associated with haemolytic anemia. Acta Haematol., 52:53-60, 1974.
2. Huisman, T.H.J., Carver, M.F.H., and Efremov, G.D.: A Syllabus of Human Hemoglobin Variants (1996), The Sickle Cell Anemia Foundation, Augusta, GA, USA, 1996 (http://globin.psu.edu)
3. 2115(G17)Ala →Pro in a Black teenager. Hemoglobin, 17:251-254, 1993.
4. th edition, Churchill Livingstone, Singapore, 1991.
5. Miller, S.A., Dykes, D.D., and Polesky, H.F.: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16:1215, 1988.
6. Ohba, Y.: Unstable hemoglobins. Hemoglobin, 14:353-388, 1990.
7. th edition, edited by E. Beutler, M.A. Lichtman, B.S. Coller, and T.J. Kipps, pages 650-653, McGraw-Hill, New York, NY, USA, 1995.
8. Bunn, H.F. and Forget, B.G.: Hemoglobin: Molecular, Genetic and Clinical Aspects, W.B. Saunders Company, Philadelphia, PA, USA, 1986.
9. 2115(G 17)Ala → Pro, a severely unstable hemoglobin variant resulting in a dominant β-thalassemia trait in a Czech family. Hemoglobin, 17:319-328, 1993.