Should We Screen for Globin Gene Mutations in Blood Samples with Mean Corpuscular Volume (MCV) Greater Than 80 FL in Areas with a High Prevalence of Thalassaemia?

Overview

Journal J Clin Pathol

Specialty Pathology

Date 2001 Apr 18

PMID 11304851

Citations 7

Authors

L C Chan

S K Ma

A Y Chan

S Y Ha

J S Waye

Y L Lau

D H Chui

Affiliations

Soon will be listed here.

Abstract

Aims: To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers.

Methods: Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of alpha globin gene mutations and the haemoglobin (Hb) E mutation.

Results: Thirty four subjects harboured globin gene mutations. Of these, 31 had deletions of one alpha globin gene, one had Hb Constant Spring, and three had Hb E mutations.

Conclusion: Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/beta thalassaemia.

Citing Articles

A Rare Case of Hemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy of Chromosome 16.

Tan Y, Tan H J Med Cases. 2021; 12(7):275-279.

PMID: 34434471 PMC: 8383697. DOI: 10.14740/jmc3693.

Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology.

Lee Y, Kim H, Lee K, Park S, Song S, Seong M Blood Res. 2019; 54(1):17-22.

PMID: 30956959 PMC: 6439293. DOI: 10.5045/br.2019.54.1.17.

Using Red Cell Indices and Reticulocyte Parameters for Carrier Screening of Various Thalassemia Syndromes.

Tangvarasittichai O, Poonanan N, Tangvarasittichai S Indian J Clin Biochem. 2017; 32(1):61-67.

PMID: 28149014 PMC: 5247372. DOI: 10.1007/s12291-016-0574-9.

Implementation of newborn screening for hemoglobin h disease in mainland china.

Xie X, Zhou J, Li J, Li R, Liao C, Li D Indian J Hematol Blood Transfus. 2015; 31(2):242-6.

PMID: 25825565 PMC: 4375153. DOI: 10.1007/s12288-014-0432-y.

Distribution of alpha thalassaemia gene variants in diverse ethnic populations in malaysia: data from the institute for medical research.

Ahmad R, Saleem M, Aloysious N, Yelumalai P, Mohamed N, Hassan S Int J Mol Sci. 2013; 14(9):18599-614.

PMID: 24025420 PMC: 3794797. DOI: 10.3390/ijms140918599.

References

Fairbanks V, Gilchrist G, Brimhall B, Jereb J, Goldston E . Hemoglobin E trait reexamined: a cause of microcytosis and erythrocytosis. Blood. 1979; 53(1):109-15. View

Chen F, Ooi C, Ha S, Cheung B, Todd D, Liang R . Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000; 343(8):544-50. DOI: 10.1056/NEJM200008243430804. View

Chan V, Yam I, Chen F, Chan T . A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. Br J Haematol. 1999; 104(3):513-5. DOI: 10.1046/j.1365-2141.1999.01221.x. View

Lau Y, Chan L, Chan Y, Ha S, Yeung C, Waye J . Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening. N Engl J Med. 1997; 336(18):1298-301. DOI: 10.1056/NEJM199705013361805. View

Chan V, Chan V, Tang M, Lau K, Todd D, Chan T . Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997; 96(2):224-8. DOI: 10.1046/j.1365-2141.1997.d01-2017.x. View

Chan A, So C, Chan L . Comparison of the HbH inclusion test and a PCR test in routine screening for alpha thalassaemia in Hong Kong. J Clin Pathol. 1996; 49(5):411-3. PMC: 500483. DOI: 10.1136/jcp.49.5.411. View

Rogers M, Phelan L, Bain B . Screening criteria for beta thalassaemia trait in pregnant women. J Clin Pathol. 1995; 48(11):1054-6. PMC: 503014. DOI: 10.1136/jcp.48.11.1054. View

Waye J, Eng B, Patterson M, Chui D, Olivieri N . Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease. Blood. 1994; 83(11):3418-20. View

Baysal E, HUISMAN T . Detection of common deletional alpha-thalassemia-2 determinants by PCR. Am J Hematol. 1994; 46(3):208-13. DOI: 10.1002/ajh.2830460309. View

10.

Higgs D . alpha-Thalassaemia. Baillieres Clin Haematol. 1993; 6(1):117-50. DOI: 10.1016/s0950-3536(05)80068-x. View

11.

Thein S . beta-Thalassaemia. Baillieres Clin Haematol. 1993; 6(1):151-75. DOI: 10.1016/s0950-3536(05)80069-1. View

12.

Cao A . 1993 William Allan award address. Am J Hum Genet. 1994; 54(3):397-402. PMC: 1918130. View

13.

Modell B, Kuliev A . A scientific basis for cost-benefit analysis of genetics services. Trends Genet. 1993; 9(2):46-52. DOI: 10.1016/0168-9525(93)90186-L. View

14.

Zhao J, Zhao L, Gu Y, HUISMAN T . Types of alpha-globin gene deficiencies in Chinese newborn babies in the Guangxi region, P. R. China. Hemoglobin. 1992; 16(4):325-8. DOI: 10.3109/03630269208998877. View

15.

Dode C, Rochette J, Krishnamoorthy R . Locus assignment of human alpha globin mutations by selective amplification and direct sequencing. Br J Haematol. 1990; 76(2):275-81. DOI: 10.1111/j.1365-2141.1990.tb07884.x. View

16.

Modell M, Modell B . Genetic screening for ethnic minorities. BMJ. 1990; 300(6741):1702-4. PMC: 1663286. DOI: 10.1136/bmj.300.6741.1702. View

17.

Fucharoen S, Winichagoon P, Thonglairuam V . Beta-thalassemia associated with alpha-thalassemia in Thailand. Hemoglobin. 1988; 12(5-6):581-92. DOI: 10.3109/03630268808991648. View

18.

Trent R, Wilkinson T, Yakas J, Carter J, Lammi A, Kronenberg H . Molecular defects in 2 examples of severe Hb H disease. Scand J Haematol. 1986; 36(3):272-9. DOI: 10.1111/j.1600-0609.1986.tb01734.x. View

19.

Chan V, Chan T, Liang S, Ghosh A, Kan Y, Todd D . Hydrops fetalis due to an unusual form of Hb H disease. Blood. 1985; 66(1):224-8. View