The β-globin genotype E121Q/W15X (cd121GAA→CAA/cd15TGG→TGA) underlines Hb D/β-(0) thalassaemia marked by domination of haemoglobin D

Annals of Hematology

Volumn 80, Issue 11, 2001, Pages 629-633

  Ahmed, M ^a   Stuhrmann, M ^b   Bashawri, L ^a   Kuhnau W ^b   El Harith, El Harith A ^b  

^a IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

^b HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Thalassaemia; Arab patients; Haemolytic anaemia; Hb D Los Angeles

Indexed keywords

GLOBIN; HEMOGLOBIN D; HEMOGLOBIN VARIANT;

ADOLESCENT; ADULT; AGED; ARTICLE; BETA THALASSEMIA; BLOOD; CASE REPORT; FEMALE; GENETICS; GENOTYPE; HEMOGLOBIN DETERMINATION; HUMAN; MALE; MUTATION; PEDIGREE; SAUDI ARABIA; THALASSEMIA;

ADOLESCENT; ADULT; AGED; BETA-THALASSEMIA; CASE REPORT; FEMALE; GENOTYPE; GLOBINS; HEMOGLOBINOMETRY; HEMOGLOBINS, ABNORMAL; HUMAN; MALE; MUTATION; PEDIGREE; SAUDI ARABIA; THALASSEMIA;

EID: 0035516239     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002770100376     Document Type: Article

References (20)

1. Adekiie AD, Kazanetz EG, Leonova JY, et al (1996) Co-inheritance of Hb D-Punjab (codon 121; GAA→CAA and beta-(0)-thalassemia (IVS-II-1; G→A). J Pediatr Hematol Oncol 18: 151-153
2. Auleha-Scholz C, Basaran S, Agaoglu L, et al (1990) Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing. Hum Genet 84:195-197
3. Beale D, Irvine D, Lehmann H, et al (1965) A new haemoglobin, D Ibadan (β-87 threonine→lysine) producing no sickle-cell haemoglobin D disease with haemoglobin S. Nature 205: 1273
4. Casals T, Baiget M, Hernandez JL (1986) Association of Hb D Punjab and beta zero thalassemia: first case in Spain. Sangre 31:483-488
5. El-Harith EA, Kühnau W, Schmidtke J, et al (1999) Identification and clinical presentation of β thalassemia mutations in the eastern region of Saudi Arabia. J Med Genet 36:935-937
6. El-Hazmi MAF, Warsy AS (1996) Genetic disorders among Arab populations. Saudi Med J 17:108-123
7. Guemira F, Abbes S, Ducrocq R, et al (1992) Hb D Iran-beta-thalassemia association in a Tunisian family. Ann Pediatr (Paris) 39:369-374
8. Islam SIAM, Quadri MI, Yunis M, et al (1999) Spectrum of non-sickling rare haemoglobin variants in the eastern region of Saudi Arabia. First Annual Haematology and Blood Transfusion Meeting 27 February-2 March 1999, Riyadh
9. Lorey F, Cunningham G, Shafer F, et al (1994) Universal screening for hemogloginopathies using high-performance liquid chromatography: clinical results of 2.2 million screens. Eur J Hum Genet 2:261-271
10. Ozsoylu S (1970) Homozygous haemoglobin D-Punjab. Acta Haematol 43:353-359
11. Perea FJ, Casas-Castaneda M, Villalobos-Arambula AR, et al (1999) Hb D-Los Angeles associated with Hb S or beta-thalassemia in four Mexican Mestizo families. Hemoglobin 23:231-237
12. Piechowiak. H, Krause M, Kohne E (1985) Haemoglobin D-β-thalassemia in a German family. A double heterozygous haemoglobinopathy. Klin Wochenschr 63:613-615
13. Ropero P, Gonzalez F, Sanchez J, et al (1997) The association of beta zero-thalassemia and Hb D Punjab in a family of Indian origin. The second case reported in Spain. Med Clin (Barc) 108:385-388
14. Ruiz-Reyes G (1998) Abnormal hemoglobins and thalassemias in Mexico. Rev Invest Clin 50:163-170
15. Stuhrmann M, Bashawri L, Ahmed MA, et al (2001) Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family. Br J Haematol 112:616-620
16. 0 thalassemia. Report of 3 cases in a Portuguese family. Nouv Rev Fr Hematol 25:387-390
17. Troitskaia OV, Antonova LA, Lozhechnik I, et al (1998) Beta-thalassemia and Hb D in patients with anemia. Klin Lab Diagn 3:16-23
18. 0-thalassemia. A report of two Canadian families. Acta Haematol 63:151-155
19. 0 thalassemia minor among its members. J Med Genet 22:377-381
20. Zago MA, Costa FF (1988) Hb D-Los Angeles in Brazil: simple heterozygotes and associations with beta Hb S. Hemoglobin 12:399-403