Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/αTSaudiα): Implications for clinical management

British Journal of Haematology

Volumn 119, Issue 1, 2002, Pages 265-267

  Traeger Synodinos, Joanne ^a   Papassotiriou, Ioannis ^b   Karagiorga, Markissia ^b   Premetis, Evangelos ^b   Kanavakis, Emmanuel ^a   Stamoulakatou, Alexandra ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Functional anaemia; HbH disease

Indexed keywords

HEMOGLOBIN H; OXYGEN;

ANEMIA; ARTICLE; BLOOD CHEMISTRY; BLOOD PROTEIN DISORDER; CELL STIMULATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; GENETIC ASSOCIATION; GENOTYPE; HEART OUTPUT; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN H DISEASE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; OXYGEN TRANSPORT; PATIENT CARE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DETERMINATION;

ANEMIA; CHILD; GENOTYPE; GLOBINS; HEMOGLOBIN H; HETEROZYGOTE; HUMANS; MALE; PHENOTYPE; RARE DISEASES;

EID: 0036399998     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03777.x     Document Type: Article

References (11)

1. Cazzola, M. & Beguin, Y. (1992) New tools for clinical evaluation of erythron function in man. British Journal of Haematology, 80, 278-284.
2. Galacteros, F., Loukopoulos, D., Fessas, P., Kister, J., Arous, N., Bohn, B., Loutradi, A., Tsitrakis, G. & Poyart, C. (1989) Hemoglobin Koeln occurring in association with a beta zero thalassemia: hematologic and functional consequences. Blood, 74, 496-500.
3. Kanavakis, E., Papassotiriou, I., Karagiorga, M., Vrettou, C., Metaxotou-Mavrommati, A., Stamoulakatou, A., Kattamis, C. & Traeger-Synodinos, J. (2000) Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. British Journal of Haematology, 111, 915-923.
4. SEA), resulting in HbH disease in a Thai patient. Hemoglobin, 25, 383-389.
5. Morales, J., Russell, J.E. & Liebhaber, S.A. (1997) Destabilization of human α-globin in mRNA by translation anti-termination is controlled during erythroid differentiation and is paralleled by phase shortening of the poly(A) tail. Journal of Biological Chemistry, 272, 6607-6613.
6. Papassotiriou, I., Kanavakis, E., Stamoulakatou, A. & Kattamis, C. (1997) Tissue oxygenation in patients with hemoglobinopathy H. Pediatric Hematology and Oncology, 14, 323-334.
7. Papassotiriou, I., Kister, J., Griffon, N., Abraham, D.J., Kanavakis, E., Traeger-Synodinos, J., Stamoulakatou, A., Marden, M. & Poyart, C. (1998) Synthesised allosteric effectors of the hemoglobin molecule: a possible mechanism for improved erythrocyte oxygen release capability in hemoglobinopathy H disease. Experimental Hematology, 26, 922-926.
8. Siggaard-Andersen, M. & Siggaard-Andersen, O. (1995) Oxygen Status Algorithm Version 3, with some applications. Acta Anaesthesiology Scandanavia, 107, 13-20.
9. Traeger-Synodinos, J., Papassotiriou, I., Vrettou, C., Skarmoutsou, C., Stamoulakatou, A. & Kanavakis, E. (2001) Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional α-globin and β-globin gene. Haematologica, 86, 363-367.
10. Whitelaw, E. & Proudfoot, N. (1986) α-thalassaemia caused by a poly (A) site mutation reveals that transcriptional termination is linked to 3′ end processing in the human a2 globin gene. EMBO Journal, 5, 2915-2922.
11. Yuregir, G.T., Aksoy, K., Curuk, M.A., Dikmen, N., Fei, Y.-J., Baysal, E. & Huisman, T.H.J. (1992) HbH disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly A mutation. British Journal of Haematology, 80, 527-532.