The rare Hb Showa-Yakushiji [β110(G12)Leu→Pro, CTG→CCG] in combination with an α gene triplication found in a Dutch patient during her first pregnancy examination

Hemoglobin

Volumn 31, Issue 2, 2007, Pages 167-171

  Giordano, Piero C ^a,c,d   Addo Daaku, Akosua ^a   Sander, Margaretha J ^a   Van Rooijen Nijdam, Irene ^b   Van Delft, Peter ^a   Harteveld, Cornelis L ^a   Kok, Peter J M J ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GROENE HART HOSPITAL   (Netherlands)

^c Center for Human and Clinical Genetics   (Netherlands)

^d NONE   (Netherlands)

Author keywords

Hemoglobinopathies; Pregnancy; Prevention

Indexed keywords

BETA GLOBIN; GENE PRODUCT; HEMOGLOBIN; HEMOGLOBIN A2;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BETA THALASSEMIA; CASE REPORT; CODON; FEMALE; GENE MUTATION; GENE NUMBER; GENE SEQUENCE; GENE TRIPLICATION; GENETIC TRAIT; HEMATOLOGIC DISEASE; HEMOGLOBINOPATHY; HEMOLYSIS; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INDIAN; JAPANESE; MEDICAL EXAMINATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA; FEMALE; HEMOGLOBINS, ABNORMAL; HUMANS; LEUCINE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PROLINE;

EID: 34248146513     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260701288922     Document Type: Article

References (11)

1. Giordano PC, Harteveld CL. Preventie van Hemoglobinopathieën in Nederland. Ned Tijdschr Geneeskd 2006; 150(39):2137-2141.
2. Giordano PC. Toward state of the art neonatal screening for secondary and primary prevention of the hemoglobinopathies in The Netherlands. Rapport Zon-Mw project t.b.v. implementatie. ISBN 90-807039-2-3.
3. Giordano PC, Smit JW, Herruer M, Huisman W, Pouwels JGJ, Verhoef N, Idema RN, Wijermans P. Dragerschapdiagnostiek en preventie van Sikkelcelziekte en Thalassemie Major. Aanbevelingen van de werkgroep hemoglobinopathieën. Ned Tijdschr Klin Chem 2006; 31:301-305.
4. Giordano PC, Plancke A, Van Meir CA, Janssen CA, Kok PJ, Van Rooijen-Nijdam IH, Tanis BC, van Huisseling JC, Versteegh FG. Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study. Prenat Diagn 2006; [Epub ahead of print].
5. Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol 2000; 108(2):295-299.
6. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000; 95(1):360-362.
7. Kobayashi Y, Fukumaki Y, Komatsu N, Ohba Y, Miyaji T, Miura Y. A novel globin structural mutant, Showa-Yakushiji (β110 Leu-Pro) causing a β-thalassemia phenotype. Blood 1987; 70(5):1688-1691.
8. Naritomi Y, Naito Y, Nakashima H, Yokota E, Imamura T. A substitution of cytosine for thymine in codon 110 of the human β-globin gene is a novel cause of β-thalassemia phenotypes. Hum Genet 1988; 80(1):11-15.
9. Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H. β-Thalassemia mutations in Japanese and Koreans. Hemoglobin 1997; 21(2):191-200.
10. Edison ES, Shaji RV, Devi SG, Kumar SS, Srivastava A, Chandy M. Hb Showa-Yakushiji [β110(G12)Leu→Pro] in four unrelated patients from west Bengal. Hemoglobin 2005; 29(1):19-25.
11. http://globin.bx.psu.edu/hbvar/menu.html.