Hb Hammersmith [β 42(CD1) Phe→Ser]: Occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies

Journal of Pediatric Hematology/Oncology

Volumn 20, Issue 6, 1998, Pages 563-566

  McMorrow Tuohy, Anne Marie ^a   McKie, Virgil C ^a   Sabio, Hernan ^a   Kutlar, Ferdane ^a   Kutlar, Abdulla ^a   Wilson, Jerry B ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

Arterial O2 saturation; Congenital anomalies; De novo mutation; Hb Hammersmith; Unstable hemolytic anemia

Indexed keywords

BETA GLOBIN; HEMOGLOBIN VARIANT; HYDROXYUREA; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GLOBIN GENE; HEINZ BODY; HEMOGLOBIN DETERMINATION; HEMOGLOBIN HAMMERSMITH; HEMOGLOBINOPATHY; HISTOPATHOLOGY; HUMAN; INFANT; MONOZYGOTIC TWINS; MULTIPLE MALFORMATION SYNDROME; NEGRO; PRIORITY JOURNAL;

EID: 0345040255     PISSN: 10774114     EISSN: None     Source Type: Journal    
DOI: 10.1097/00043426-199811000-00011     Document Type: Article

References (20)

1. Dacie JV, Shinton NK, Geffney PJ Jr, et al. Haemoglobin Hammersmith [β 42 (CDl) Phe→Ser]. Nature 1967;216:663-5.
2. Kutlar A, Huisman THJ. Detection of hemoglobinopathies. In: Hommes F, ed. Techniques in diagnostic human biochemical genetics: A laboratory manual. New York: John Wiley & Sons, 1991:519-60.
3. st Annual Meeting of the National Sickle Cell Disease Program, Mobile, Alabama, March 6-9, 1996.
4. Krishnan BR, Chaplin D. Fluorescent automated sequencing of super-coiled high molecular weight double stranded DNA. Biotechniques 1994;17:854-7.
5. Gillies IDS, White YS, White JM. Compensatory mechanisms for the severe anaemia caused by haemoglobin Hammersmith. Eur J Clin Invest 1976;6:213-20.
6. Wajcman H, Leroux A, Labie D. Functional properties of hemoglobin Hammersmith. Biochimie 1973;55:119-25.
7. May A, Huehns ER. The oxygen affinity of haemoglobin Hammersmith. Br J Haematol 1975;30:185-95.
8. Lehmann H, Huntsman RG. Unstable haemoglobins and haemoglobins with altered oxygen affinity. In: Man's haemoglobins. Philadelphia: J.B. Lippincott, 1974;217-35.
9. Grimes AJ, Meisler A, Dacie JV. Congenital Heinz-body anaemia: further evidence on the cause of Heinz-body production in red cells. Br J Haematol 1964;10:281-90.
10. Lang SA, Chang PC, Laxdal VA, et al. Haemoglobin Hammersmith precludes monitoring with conventional pulse oximetry. Can J Anaesth 1994;41:965-8.
11. Shinton NK, Thursby-Pelham DC, Williams HP. Congenital Heinzbody haemolytic anaemia due to haemoglobin Hammersmith. Postgrad Med J 1969;45:629-32.
12. Ohba Y, Miyaji T, Matsuoka M, et al. Hemoglobin Chiba: Hb Hammersmith in a Japanese girl. Acta Haematol Jap 1975;38:53-8.
13. Rahbar S, Feagler RJ, Beutler E. Hemoglobin Hammersmith [β42 (CD1) Phe→Ser] associated with severe hemolytic anemia. Hemoglobin 1981;5:97-105.
14. Schroeder WA, Shelton JB, Shelton JR, et al. Identification of eleven human hemoglobin variants by high-performance liquid chromatography: additional data on functional properties and clinical expression. Biochem Genet 1982;20:133-52.
15. Rahbar S, Bennetts GA, Ettinger LJ. Hemoglobin Hammersmith as the cause of severe hemolytic anemia in a chinese girl. Am J Pediatr Hematol Oncol 1986;8:13-7.
16. Dianzani I, Ramus S, Cotton RGH, et al. A spontaneous mutation causing unstable Hb hammersmith: detection of the β42 TTT→TCT change by CCM and direct sequencing. Br J Haematol 1991; 79:127-9.
17. 242(CD1)PHE→SER observed in an Indian child: identification by HPLC and by sequence analysis of amplified DNA. Hemoglobin 1992;16:19-25.
18. Hyman CB, Gonick HC, Neufeld N, et al. Mineral balance (iron, aluminum, copper, zinc) after high-dose intravenous desferal in a child with hemoglobin Hammersmith and Turner's syndrome. Am J Pediatr Hematol Oncol 1989;11:450-5.
19. Dacie J. The unstable haemoglobin haemolytic anaemias. In: The haemolytic anaemias. Edinburgh: Churchill Livingstone, 1988;322:322-83.
20. Rose C, Bauters F. Hydroxyurea therapy in highly unstable hemoglobin carriers. Blood 1996;88:2807-2809.