Importance of molecular biology in the characterization of beta-thalassemia carriers

European Review for Medical and Pharmacological Sciences

Volumn 15, Issue 1, 2011, Pages 79-86

  Dell'Edera, Domenico ^a   Pacella, E ^b   Epifania, A A ^a   Benedetto, M ^a   Tinelli, A ^c   Mazzone, E ^a   Laterza, F ^d   Malvasi, A ^d  

^a MADONNA DELLE GRAZIE HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c VITO FAZZI HOSPITAL   (Italy)

^d Santa Maria Hospital   (Italy)

Author keywords

thalassemia; Carrier screening; HbA2 borderline; Prenatal diagnosis

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; DNA; FERRITIN; HEMOGLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F; IRON;

ADULT; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CASE REPORT; DNA ISOLATION; ERYTHROCYTE COUNT; FEMALE; FERRITIN BLOOD LEVEL; FIRST TRIMESTER PREGNANCY; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HUMAN; IRON BLOOD LEVEL; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PRENATAL SCREENING; GENETICS; HETEROZYGOTE DETECTION; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

ADULT; BETA-THALASSEMIA; FEMALE; HEMOGLOBIN A2; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 79953137784     PISSN: 11283602     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. MYERS RM, TILLY K, MANIATIS T. Fine structure genetic analysis of a beta globin promoter. Science 1986; 232: 613-618.
2. PT ROWLEY, M LIPKIN, JR, AND L FISHER. Screening and genetic counseling for beta-thalassemia trait in a population unselected for interest: comparison of three counseling methods. Am J Hum Genet 1984; 36: 677-689.
3. MARY PETROU. Screening for beta thalassaemia. Indian J Hum Genet 2010; 16: 1-5.
4. WAJCMAN H, PRÉHU H, BARDAKDJIAN-MICHAU J, PROMÉ D, RIOU J, GODART J, MATHIS M, HURTREL D AND GALACTÉROS F. Abnormal Hermoglobins. Hemoglobin 2001; 25: 169-181.
5. THEIN SL. Genetic modifiers of beta-thalassemia. Haematologica 2005; 90: 649-660.
6. KAN YW, CHANG JC. Molecular diagnosis of hemoglobinopathies and thalassemia. Prenat Diagn 2010; 30: 608-610.
7. PRÉHU C, DUCROCQ R, GODART C, RIOU J, GALACTÉROS F. Determination of Hb F levels: the routine methods. Hemoglobin 1998; 22: 459-467.
8. MOSCA A, PALEARI R, LEONE D, IVALDI G. The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies. Clin Biochem 2009; 1797-1801.
9. HUISMAN THJ. Gamma chain abnormal human fetal haemoglobin variants. Am J Hematol 1997; (55): 159-163.
10. HARTHOORN-LASTHUIZEN EJ, LINDEMANS J, LANGENHUIJSEN MM. Influence of iron deficiency anaemia on haemoglobin A2 levels: possible consequences for beta-thalassaemia screening. Scand J Clin Lab Invest 1999; (59): 65-70.
11. MADAN N, SIKKA M, SHARMA S, RUSIA U. Phenotypic expression of hemoglobin A2 in beta-thalassemia trait with iron deficiency. Ann Hematol 1998; 77: 93-96.
12. GIORDANO PC. The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis. Clin Lab Haematol 2003 25: 203.
13. PORNPRASERT S, KASEMRAD C, SUKUNTHAMALA K. Diagnosis of thalassemia on dried blood spot samples by high performance liquid chromatography. Hemoglobin 2010; 34: 486-494.
14. MOSCA A, PALEARI R, IVALDI G, GALANELLO R, GIORDANO PC. The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol 2009; 62: 13-17.
15. DELL'EDERA D, EPIFANIA AA, CASCONE A. Incidence of beta-thalassemia in the province of Matera. Atti Soc Lucana Med Chir 2000; pp. 103-106.
16. KALLEAS C, TENTES I, MARGARITIS D, ANAGNOSTOPOULOS K, TOLI A, PENDILAS D, BOURIKAS G, TSATALAS C, KORTSARIS AH. Effect of HbS in the determination of HbA(2) with the TOSOH HLC-723G7 analyzer and the HELENA Beta-Thai Quik column kit. Clin Biochem 2007; 40: 242-247.
17. GALANELLO R, BARELLA S, IDEO A, GASPERINI D, ROSATELLI C, PADERI L, PAGLIETTI E, SOLLAINO C, PERSEU L, LOI D. Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. Am J Hematol 1994; 46: 79-81.
18. ALPERIN JB, DOW PA, PETTEWAY MB. Hemoglobin A2 levels in health and various hematologic disorders. Am J Clin Pathol 1977; 67: 219-226.