mRNA analysis in reticulocytes of subjects with Hb D, Hb Porto Alegre, Hb E, and different types of unstable hemoglobin variants

American Journal of Hematology

Volumn 52, Issue 4, 1996, Pages 258-263

  Smetanina, N S ^a   Huisman, T H J ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

alternate splicing; gel electrophoresis; mRNA in compound heterozygotes; mRNA stability; RT PCR

Indexed keywords

HEMOGLOBIN DELTA CHAIN; HEMOGLOBIN DERIVATIVE; HEMOGLOBIN E;

ARTICLE; CLINICAL ARTICLE; DISEASE CLASSIFICATION; GEL ELECTROPHORESIS; HEMOGLOBINOPATHY; HUMAN; PRIORITY JOURNAL; RETICULOCYTE; RNA ANALYSIS; RNA SPLICING;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; FEMALE; GLOBINS; HEMOGLOBIN E; HEMOGLOBINS, ABNORMAL; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RETICULOCYTES; RNA, MESSENGER;

EID: 0029737918     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199608)52:4<258::AID-AJH4>3.0.CO;2-R     Document Type: Article

References (26)

1. International Hemoglobin Information Center. Hemoglobin 19:39, 1995.
2. Ohba Y: Unstable hemoglobins. Hemoglobin 14:353, 1990.
3. Smetanina NS, Adekile AD, Huisman THJ: mRNA ratios in β-thalassaemia heterozygotes with different β-thalassaemia alleles and in heterozygotes for hereditary persistence of foetal haemoglobin. Acta Haematol (in preparation).
4. 29(A6)Ser→Cys in unrelated families from the Canary Islands. Hemoglobin 17:457, 1993.
5. Efremov GD, Jankovic L, Juricic D, Stojancov A, Wilson JB, Webber BB, Kutlar F, Kutlar A, Hu H, Huisman THJ: Hb Bushwick [β74(E18) Gly→Val] heterozygotes in a Yugoslavian family have 35 to 40% of the unstable variant. Hemoglobin 11:557, 1987.
6. Plaseska D, Jankovic L, Dimovski AJ, Milenovic D, Juricic D, Efremov GD: Hb Yokohama [β31 (B13)Leu→Pro] detected as a de novo mutation in a Yugoslavian boy. Hemoglobin 15:469, 1991.
7. White JM, Brain MC, Lorkin PA, Lehmann H, Smith M: Mild "unstable haemoglobin haemolytic anaemia" caused by haemoglobin Shepherds Bush (β74(E18)Gly→Asp). Nature 225:939, 1970.
8. Oude Elferink RFM: Hb Atlanta (in preparation).
9. 268(E12)Leu→Pro in a young Dutch boy. Hemoglobin 19:203, 1995.
10. 2, a mildly unstable variant with an A→G (GAC→GGC) mutation in codon 94 of the α1-globin gene. Hemoglobin 18:57, 1994.
11. Romero MJ, Garrido ML, Abril E, Garrido F, de Pablos JM: Detection of Hb J-Camagüey [α141(HC3)Arg→Gly] in three Spanish families. Hemoglobin (in press).
12. Qin W-B, Pobedimskaya DD, Molchanova TP, Wilson JB, Gu L-H, de Pablos JM, Huisman THJ: Hb Fannin-Lubbock in five Spanish families is characterized by two mutations: β111 GTC-CTC (Val→ Leu) and β110GGC→GAC (Gly→Asp). Hemoglobin 18:297, 1994.
13. 2107(G9)Gly→Asp]-β°-thalassemia (codon 15; TGG→ TAG), a form of thalassemia intermedia. Am J Hematol 50:26, 1995.
14. Bissé E, Wieland H: High-performance liquid Chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins. J Chromatogr 434:95, 1988.
15. 4 column. J Liq Chromatogr 7:1969, 1984.
16. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S: Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes. Hemoglobin 6:27, 1982.
17. Baysal E, Huisman THJ: Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol 46:208, 1994.
18. Chomczynski P: A reagent for the single-step simultaneous isolation of RN A, DNA and proteins from cell and tissue samples. Biotechniques 15:532, 1993.
19. Molchanova TP, Pobedimskaya DD, Huisman THJ: The differences in quantities of α2- and α1-globin gene variants in heterozygotes. Br J Haematol 88:300, 1994.
20. Smetanina NS, Leonova JY, Levy N, Huisman THJ: The α/β and α2/ α1-globin mRNA ratios in different forms of α-thalassemia. Biochim Biophys Acta (in press).
21. Efremov DG, Dimovski AJ, Sukurova E, Schiliro G, Zisovski N, Efremov CD, Burrone OR, Huisman THJ: γ-mRNA and Hb F levels in β-thalassaemia. Br J Haematol 88:311, 1994.
22. +-HPFH combinations. Br J Haematol 87:353, 1994.
23. E mRNA. Nature 288:497, 1980.
24. 26Glu-Lys). J Clin Invest 68:118, 1981.
25. E globin gene. Nature 300:768, 1982.
26. E-messenger RNA during erythroid cell maturation in hemoglobin E homozygotes. J Clin Invest 69:1050, 1982.