A severe α thalassemia case compound heterozygous for Hb Adana in α1 gene and 20.5 kb double gene deletion

Journal of Pediatric Hematology/Oncology

Volumn 31, Issue 8, 2009, Pages 592-594

  Durmaz, Asude Alpman ^a   Akin, Haluk ^a   Ekmekci, Aslihan Yilmaz ^a   Onay, Huseyin ^a   Durmaz, Burak ^a   Cogulu, Ozgur ^a   Aydinok, Yesim ^a   Ozkinay, Ferda ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Alpha 1 gene; Hb Adana; Hb H disease

Indexed keywords

ALPHA GLOBIN; DEFERASIROX; DEFEROXAMINE; FERRITIN; HEMOGLOBIN ADANA; HEMOGLOBIN H; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ALPHA THALASSEMIA; ARTICLE; BLOOD CELL COUNT; BLOOD TRANSFUSION; CASE REPORT; CELL INCLUSION; CHILD; ERYTHROCYTE; ERYTHROCYTE COUNT; FERRITIN BLOOD LEVEL; GENE DELETION; HEMOGLOBIN BLOOD LEVEL; HEMOLYTIC ANEMIA; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; ADULT; GENETICS; HOSPITALIZATION; PATHOLOGY;

ADULT; ALPHA-THALASSEMIA; CHILD; GENE DELETION; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 68849097635     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181a71855     Document Type: Article

References (12)

1. Higgs DR. a-Thalassaemia. Baillieres Clin Haematol. 1993;6:117-150.
2. Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101:791-800. (Pubitemid 36139341)
3. Papassotiriou I, Traeger-Synodinos J, Kanavakis E, et al. Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease. J Pediatr Hematol Oncol. 1998;20:539-544. (Pubitemid 29135819)
4. Kanavakis E, Papassotiriou I, Karagiorga M, et al. Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. Br J Haematol. 2000;111:915-923. (Pubitemid 32098932)
5. Chui DH. Alpha-thalassemia: Hb H disease and Hb barts hydrops fetalis. Ann N Y Acad Sci. 2005;1054:25-32.
6. Curuk MA, Dimovski AJ, Baysal E, et al. Hb Adana or alpha 2(59) (E8)Gly→Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5Kb alphathal-1 deletion in two Turkish patients. Am J Hematol. 1993;44:270-275.
7. Moradkhani K, Préhu C, Old J, et al. Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol. 2008 [Epub ahead of print].
8. Chan V, Chan VW, Tang M, et al. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997;96:224-228.
9. Henderson S, Pitman M, McCarthy J, et al. Molecular prenatal diagnosis of Hb H Hydrops Fetalis caused by haemoglobin Adana and the implications to antenatal screening for α-thalassaemia. Prenat Diagn. 2008;28:859-861.
10. Douna V, Papassotiriou I, Garoufi A, et al. A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly→Asp] with an alpha ± thalassemia deletion: clinical aspects in two cases. Hemoglobin. 2008;32:361-369.
11. 2, codon 59, GGC→GAC) or a nondeletional α-thalassemia mutation (AATAA→AATAAG): comparison of phenotypes illustrating dominant α-thalassemia. Hemoglobin. 1999;23:325-337.
12. The α thalassaemia and their interaction with structural haemoglobin variants. In: Weatherall DJ, Clegg JB, eds. The Thalassaemia Syndromes. 4th ed. Oxford, UK: Blackwell Science Ltd; 2001:506.