COMPOUND HETEROZYGOSITY FOR Hb C AND Hb LEPORE-BOSTON-WASHINGTON IN A PATIENT FROM CROATIA
Bardarova K1, Plaseska-Karanfilska D1, Preden-Kerekovic V2, Efremov GD1
*Corresponding Author: : Professor Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology, Aven. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel: +3892 239 061; Fax: +3892 115 131; E-mail: gde@manu.edu.mk
page: 33

REFERENCES

1. Huisman THJ, Carver MFH, Efremov GD: A Syllabus of Human Hemoglobin Variants (second edi­tion). The Sickle Cell Anemia Foundation, Augusta GA USA, 1998 (http//globin.cse.psu.edu).

2. Flint J, Harding RM, Boyce AJ, Clegg JB: The population genetics of the haemoglobinopathies. In The Haemoglobinopathies, Weatherall DJ, Higgs DR, (eds). Balli?re's Clinical Haematology, Vol. 6, W.B. Saunders Company, London, UK, 1993.

3. Efremov GD: Abnormal hemoglobins and b-Thalassemia in Europe: Northern and Eastern Countries. In Hemoglobin Variants in Human Populations, Vol. 1, CRC Press, Inc., Boca Raton, FL, USA, 1986.

4. Boehm CD, Dowling CE, Antonarakis SE, Honig GR, Kazaria R: Evidence supporting a single origin of the bC-gene in blacks. Am J Hum Genet 1985; 37 (4): 771-777.

5. Trabuchet G, Elion G, Dunda O, Lapoumeroulie C, Ducrocq R, Nadifi S, Zohoun I, Chaventre A, Carnevale P, Nagel RL: Nucleotide sequence evidence of the unicentric origin of the bC mutation in Africa. Hum Genet 1991; 87: 597-601.

6. Efremov GD: Hemoglobins Lepore and anti-Lepore. Hemoglobin 1978; 2 (3): 197-233.

7. Lanclos KD, Patterson J, Efremov GD, Wong SC, Villegas A, Ojwang PJ, Wilson JB, Kutlar F, Huisman THJ: Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya. Hum Genet 1987; 77: 40-45.

8. Huisman THJ, Carver MFH, Efremov GD: Some of the more common methods for the detection of the human hemoglobin variants. In: A Supplement to the Hemoglobin and Thalassemia Syllabi. The Sickle Cell Anemia Founda­tion, Augusta, GA, USA, 1998, p. 61.

9. Poncz M, Solowiejczyk D, Harpel B, Mory J, Schwartz E, Surrey E: Construction of human gene libraries from small amounts of peripheral blood: analyses of b-like globin genes. Hemoglobin 1982; 6 (1): 27-36.

10. Lindeman R, Volpato F, Trent RJ: Detection and characterisation of the Hb Lepore (Boston) defect by polymerase chain reaction. Br J Haematol 1989; 73: 566-568.

11. Labie D, Elion J: Sequence polymorphisms of potential functional relevance in the b-globin gene locus. Hemoglobin 1996; 20 (2): 85-101.




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