Carrier Testing for Autosomal- Recessive Disorders

REFERENCES

• Okada S, O'Brien JS. Tay-Sachs disease: generalized absence of beta-D-N-acetylhexosamini-dase component. Science 1969; 165: 698–700.
   PubMed Web of Science ®Google Scholar
• Kaback MM. Thermal fractionation of serum hexosaminidase: applications to heterozygote detection and diagnosis of Tay-Sachs disease. Methods Enzymol 1972; 28: 862–7.
   Google Scholar
• Myerowitz R, Prioa RL. CDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. Proc Natl Acad Sci USA 1984; 81: 5394–8.
   PubMedGoogle Scholar
• O'Dowd BF, Quan F, Willard HF, et al. Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci USA 1985; 82: 1184–8.
   PubMedGoogle Scholar
• Gravel RA, Kaback MM, Proia RL et al., The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Eds. The metabolic and molecular basis of inherited disease. Pp. 384748. New York: McGraw-Hill, 2001.
   Google Scholar
• Kaback MM, Lim-Steele J, Dabholkar D, et al. Tay-Sachs Disease — carrier screening, prenatal diagnosis and the molecular era, an international perspective 1970-1993. JAMA 1993; 270: 2307–15.
   Google Scholar
• Andermann E, Scriver CR, Wolf LS, et al. Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res 1977; 18: 161–88.
   PubMedGoogle Scholar
• Petersen GM, Lim JST, Roy C, et al. Population genetics of partial hexosaminidase deficiency (PHD) in Jews and non-Jews (NJ). Clin Res 1983; 31: 111A.
   Google Scholar
• McDowell GA, Fabacher P, Shapira E, et al. Characterization and distribution of Tay-Sachs disease allele in the Cajun population. Am J Hum Genet 1991; 49(Suppl): A9.
   Google Scholar
• Kelley ET, Chase AG, Kaback MM, et al. Tay-Sachs disease: high frequency in a non-Jewish population. Am J Hum Genet 1975; 27: 287–91.
   PubMedGoogle Scholar
• Vecht J, Zeigler M, Segal M, et al. Tay-Sachs disease among Moroccan-Jews. Isr J Med Sci 1983; 19: 67–9.
   PubMedGoogle Scholar
• Paw BH, Phuong TT, Kaback MM, et al. Frequency of three Hex A mutant alleles among Jewish and Non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet 1990; 47: 698–705.
   PubMedGoogle Scholar
• Triggs-Raine BL, Mules EH, Kaback MM, et al. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet 1993; 53: 537–9.
   PubMedGoogle Scholar
• Cao Z, Natowicz MR, Kaback MM, et al. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet 1993; 53: 1198–205.
   PubMedGoogle Scholar
• Goodman RM. Spongy degeneration of the central nervous system. In: Goodman RM, Ed. Genetic disorders among the jewishpeople. Pp. 109-115. Baltimore, MD: The Johns Hopkins University Press, 1979.
   Google Scholar
• Canavan MM. Schilder's encephalitis periaxialis diffusa. Arch Neurol Psychiat 1931; 25: 299.
   Google Scholar
• Matalon R, Michals K, Sebasta D, et al. Aspartoacylase deficiency and n-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988; 29: 463–71.
   PubMedGoogle Scholar
• Kaul R, Gao GP, Balamurugan K, et al. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet 1993; 5: 118–23.
   PubMed Web of Science ®Google Scholar
• Kaul R, Gao GP, Aloya M, et al. Canavan Disease: mutations among Jewish and Non-Jewish patients. Am J Hum Genet 1994; 55: 34–51.
   PubMedGoogle Scholar
• Kaul R, Gao GP, Balamurugan K, et al. Spectrum of Canavan mutations among Jewish and non-Jewish patients. Am J Hum Genet 1994; 55: A212.
   Google Scholar
• Matalon R, Kaul R, Michals K. Carrier rate of Canavan disease among Ashkenazi Jewish individuals. Am J Hum Genet 1994; 55: A908.
   Google Scholar
• Kronn D, Oddoux C, Phillips J, et al. Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet 1995; 57: 1250–2.
   PubMedGoogle Scholar
• Kelley RI. Prenatal diagnosis of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid. J Inherit Metab Dis 1993; 16: 918–9.
   PubMedGoogle Scholar
• Blumenfeld A, Slaugenhaupt SA, Liebert CB, et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet 1999; 64: 1110–8.
   PubMedGoogle Scholar
• Anderson SL, Coli R, Daly IW, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001; 68: 753–8.
   PubMed Web of Science ®Google Scholar
• Schuchman EH, Suchi M, Takahashi T, et al. Human acid sphingomyelinase: isolation nucle-otide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 1991; 66: 8531.
   Google Scholar
• Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Eds. The metabolic and molecular basis of inherited disease. Pp. 3601-2. New York: McGraw-Hill, 2001.
   Google Scholar
• Levran O, Desnick RJ, Schuchman EH. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci USA 1991; 88: 3748–52.
   PubMedGoogle Scholar
• Levran O, Desnick RJ, Schuchman EH. Identification and expression of a common missense mutaton (L30P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick Disease patients. Blood 1992; 80: 2081–7.
   PubMedGoogle Scholar
• Levran O, Desnick RJ, Schuchman EH. Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. Hum Mutat 1993; 2: 317–9.
   PubMedGoogle Scholar
• Li L, Cagana M, Robinowitz J, et al. Prenatal genetic screening in the Ashkenazi Jewish population: a pilot program of multiple option testing for five disorders. Am J Hum Genet 1997; 61: A24.
   Google Scholar
• Levran O, Desnick RJ, Schuchman EH. Niemann-Pick type B disease: identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J Clin Invest 1991; 88: 806–10.
   PubMedGoogle Scholar
• Vanier MT, Ferlinz K, Rousson, et al. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum Genet 1993; 92: 3250–330.
   Google Scholar
• Giampietro PF, Adler-Brecher B, Verlander PC, et al. The need for more accurate and timely diagnosis in Fanconi anemia. Report from the International Fanconi Anemia Registry. Pediatrics 1993; 91: 1116–20.
   Google Scholar
• Auerbach AD. Diagnosis of Fanconi anemia by diepoxybutane analysis. In: Dracopoli NC, Seidman JG (Eds). Current protocols in human genetics. Pp. 8.7.1-8.7.12. New York: John Wiley, 1994.
   Google Scholar
• Strathdee CA, Gavish H, Shannon WR, et al. Cloning of cDNAs for Fanconi's anemia by functional complemetation. Nature 1992; 356: 763–7.
   PubMed Web of Science ®Google Scholar
• Verlander PC, Lin JD, Udono MU, et al. Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 1994; 54: 595–601.
   PubMed Web of Science ®Google Scholar
• Whitney MA, Saito H, Jakobs PM, et al. A common mutation in the FACC gene causes Fanconi anemia in Ashkenazi Jews. Nat Genet 1993; 4: 202–5.
   PubMed Web of Science ®Google Scholar
• Whitney MA, Jakobs P, Kaback M, et al. The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. Hum Mutat 1994; 3: 339–41.
   PubMedGoogle Scholar
• Butturini A, Gale RP, Verlander PC, et al. Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study. Blood 1994; 84: 1650–5.
   PubMed Web of Science ®Google Scholar
• Gillio AP, Verlander PC, Batish SD, et al. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: An International Fanconi Anemia Registry Study. Blood 1997; 90: 105–10.
   PubMed Web of Science ®Google Scholar
• Verlander PC, Kaporis A, Liu Q, et al. Carrier Frequency of the IVS4 +4A>T Mutation of the Fanconi Anemia gene FAC in the Ashkenazi Jewish population. Blood 1995; 86: 4034–8.
   PubMed Web of Science ®Google Scholar
• German J, Ellis NA. Bloom syndrome. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Eds. The metabolic and molecular basis of inherited disease. Pp. 733-734. New York: McGraw-Hill, 2001.
   Google Scholar
• Ellis NA, Groden J, Ye T-Z, et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995; 83: 655–66.
   PubMed Web of Science ®Google Scholar
• Ellis NA, Ciocci S, Proytcheva M, et al. The Ashkenazic Jewish Bloom syndrome mutation Blm ASH is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet 1998; 63: 1685–93.
   PubMedGoogle Scholar
• Roa BB, Carlo V, Savino C, et al. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281del6ins7 mutation. Genet Test 1999; 3: 219–21.
   PubMedGoogle Scholar
• Shahrabani-Gargir L, Shomrat R, Yaron Y, et al. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet Test 1998; 2: 293–6.
   PubMedGoogle Scholar
• Genetic testing for cystic fibrosis. National Institute of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis. Arch Intern Med 1999; 159: 1529–39.
   Google Scholar
• Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066–73.
   PubMed Web of Science ®Google Scholar
• Palomaki GE, Haddow JE, Bradley LA, et al. An updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med 2002; 4: 90–4.
   PubMed Web of Science ®Google Scholar
• Beutler E. Gaucher's Disease: Current concepts. N Engl J Med 1991; 325: 1354–9.
   PubMedGoogle Scholar
• Sidransky E, Tsuji S, Martin BM, et al. DNA mutation analysis of Gaucher patients. Am J Med Genet 1992; 42: 331–6.
   PubMedGoogle Scholar
• Horowitz M, Wilder S, Horowitz Z, et al. The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 1989; 4: 87–96.
   PubMed Web of Science ®Google Scholar
• Tsuji S, Martin BM, Barranger JA, et al. Genetic heterogeneity in type I Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci USA 1988; 85: 2349–52.
   PubMed Web of Science ®Google Scholar
• Zimran A, Sorge J, Gross E, et al. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1989; ii: 349–52.
   Google Scholar
• Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991; 49: 855–9.
   PubMed Web of Science ®Google Scholar
• Horowitz M, Pasmanik-Chor M, Borochowitz Z, et al. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish Population. Hum Mutat 1998; 12: 240–4.
   PubMed Web of Science ®Google Scholar
• Beutler E, Gelbart T, Kuhl W, et al. Identification of the second common Jewish Gaucher disease mutation makes possible population based screening for the heterozygous state. Proc Natl Acad Sci USA 1991; 88: 10544–7.
   PubMed Web of Science ®Google Scholar
• Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993; 52: 85–8.
   PubMed Web of Science ®Google Scholar
• Beutler E. The cost of treating Gaucher disease. Nat Med 1996; 2: 523–4.
   PubMed Web of Science ®Google Scholar
• NIH technology assessment panel on Gaucher disease: Gaucher disease — current issues in diagnosis and treatment. JAMA 1996; 275: 548–53.
   PubMed Web of Science ®Google Scholar
• Bunn HF. Hemoglobin structure, function, and assembly. In: Embury SH, Hebbel RP, Mohandas N, Steinberg MH, Eds. Sickle cell disease: Basic Principles and Clinical Practice. Pp. 19-32. New York: Lippincott-Raven, 1996.
   Google Scholar
• Cao A, Galanello R, Rosatelli MC. Prenatal diagnosis and screening of the haemoglobinopathies. Baillieres Clin Haematol 1998; 11: 215–38.
   PubMed Web of Science ®Google Scholar
• Higgs DR, Thein SL, Wood WG. The pathophysiology of the thalassaemias. In: Weatherall DJ, Clegg JB, Eds. The thalassaemia syndromes 4th ed. Pp. 192-236. London: Blackwell Sciences, 2001.
   Google Scholar
• Tuzmen S, Schechter AN. Genetic diseases of hemoglobin: diagnostic methods for elucidating P-thalassemia mutations. Blood Rev 2001; 15: 19–29.
   PubMed Web of Science ®Google Scholar
• Huisman THJ, Carver MFH, Baysal E. A syllabus of thalassemia mutations (1997). Augusta, Georgia: The Sickle Cell Anemia Foundation, 1997.
   Google Scholar
• Kan YW. Development of DNA analysis for human diseases. Sickle cell anemia and thalassemia as a paradigm. JAMA 1992; 267: 1532–6.
   PubMedGoogle Scholar
• Gibbons R, Higgs DR, Olivieri NF, et al. The P thalassaemias. In: Weatherall DJ, Clegg JB, Eds. The Thalassaemia Syndromes 4th ed. Pp. 287-356. London: Blackwell Sciences, 2001.
   Google Scholar
• Weatherall DJ. Fortnightly review: the thalassaemias. Br Med J 1997; 314: 1675–8.
   PubMed Web of Science ®Google Scholar
• Olivieri NF. The P-thalassemias. N Engl J Med 1999; 341: 99–109.
   PubMed Web of Science ®Google Scholar
• Kazazian HH Jr. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 1990; 27: 209–28.
   PubMedGoogle Scholar
• Hsia YE. Detection and prevention of important a-thalassemia variants. Semin Perinatol 1991; 15: 35–42.
   PubMedGoogle Scholar
• Ireland JH, Luo H-Y, Chui DHK, et al. Detection of the (–SEA) double a-globin gene deletion by a simple immunologic assay for embryonic Z-globin chains. Am J Hematol 1993; 44: 228.
   Google Scholar
• Gibbons R, Higgs DR, Olivieri NF, et al. The a thalassaemias and their interaction with structural haemoglobin variants. In: Weatherall DJ, Clegg JB, Eds. The thalassaemia syndromes 4th ed. Pp. 484-525. London: Blackwell Sciences, 2001.
   Google Scholar
• Bianchi DW, Beyer EC, Stark AR, et al. Normal long-term survival with alpha-thalassemia. J Pediatr 1986; 108: 716–8.
   PubMedGoogle Scholar
• Beaudry MA, Ferguson DJ, Pearse K, et al. Survival of a hydropic infant with homozygous alpha-thalassemia-1. J Pediatr 1986; 108: 713–6.
   PubMedGoogle Scholar
• Chui DH, Wong SC, Scriver CR. The thalassemias and health care in Canada: a place for genetics in medicine. Can Med Assoc J 1991; 144: 21–3.
   Google Scholar
• Flint J, Harding RM, Boyce AJ, et al. The population genetics of the haemoglobinopathies. Baillieres Clin Haematol 1998; 11: 1–51.
   PubMed Web of Science ®Google Scholar
• Chui DHK, Waye JS, Chitayat D, et al. Screening for thalassemia and sickle hemoglobin. Can J Ob Gyn Womens Health Care 1993; 5: 453–7.
   Google Scholar
• American College of Obstetrics and Gynecology. Hemoglobinopathies in pregnancy ACOG Technical Bulletin 1996; 220: 1–9.
   Google Scholar
• Bernini LF, Harteveld CL. a-thalassaemia. Baillieres Clin Haematol 1998; 11: 53–90.
   PubMed Web of Science ®Google Scholar
• Thien SL. P-thalassaemia. Baillieres Clin Haematol 1998; 11: 91–126.
   PubMedGoogle Scholar
• Chong SS, Boehm CD, Higgs DR, et al. Single-tube multiplex-PCR screen for common deletional determinants of a-thalassemia. Blood 2000; 95: 360–2.
   PubMed Web of Science ®Google Scholar
• Glader BE, Look KA. Hematologic disorders in children from Southeast Asia. Pediatr Clin North Am 1996; 43: 665–81.
   PubMedGoogle Scholar
• Kazazian HH Jr. Molecular basis and prenatal diagnosis of P-thalassemia. Blood 1988; 72: 1107–16.
   PubMedGoogle Scholar
• Working Party of the General Haematology Task Force of the British Committee for Standards in Hematology. The laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998; 101: 783–92.
   PubMed Web of Science ®Google Scholar
• Yong KN, Wadsworth LD, Langlois S, et al. Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent. Clin Genet 1999; 55: 20–5.
   PubMedGoogle Scholar
• Keskin A, Turk T, Polat A, et al. Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. Acta Haematol 2000; 104: 31–3.
   PubMed Web of Science ®Google Scholar
• Skogerboe KJ, West SF, Smith C, et al. Screening for a-thalassemia. Correlation of hemoglobin H inclusion bodies with DNA-determined genotype. Arch Pathol Lab Med 1992; 116: 1012–8.
   PubMedGoogle Scholar
• Chan AYY, So CKC, Chan LC. Comparison of the HbH inclusion test and a PCR test in routine screening for a thalassemia in Hong Kong. J Clin Pathol 1996; 49: 411–3.
   PubMed Web of Science ®Google Scholar
• Losekoot M, Fodde R, Harteveld CL, et al. Denaturing gradient gel electrophoresis and direct sequencing of PCR-amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia. Br J Haematol 1990; 76: 269–74.
   PubMed Web of Science ®Google Scholar
• Cai S-P, Kan YW. Identification of the multiple P-thalassemia mutations by denaturing gradient gel electrophoresis. J Clin Invest 1990; 85: 550–3.
   PubMed Web of Science ®Google Scholar
• Sheffield VC, Cox DR, Lerman LS, et al. Attachment of a 40-base pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 1989; 86: 232–6.
   PubMed Web of Science ®Google Scholar
• Ristaldi MS, Pirastu M, Rosatelli C, et al. Prenatal diagnosis of P-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucle-otide probes. Prenat Diagn 1989; 9: 629–38.
   PubMed Web of Science ®Google Scholar
• Saiki RK, Bugawan TL, Horn GT, etal. Analysis of enzymatically amplified P globin and HLA-DQ a DNA with allele specific oligonucleotide probes. Nature 1986; 324: 163–6.
   PubMed Web of Science ®Google Scholar
• Saiki RK, Chang C-A, Levenson CH, et al. Diagnosis of sickle-cell anemia and P-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 1988; 319: 537–41.
   PubMed Web of Science ®Google Scholar
• Cai S-P, Chang CA, Zhang J-Z, et al. Rapid prenatal diagnosis of P-thalassemia using DNA amplification and non-radioactive probes. Blood 1989; 73: 372–4.
   PubMed Web of Science ®Google Scholar
• Cai S-P, Zhang J-Z, Huang DH, et al. A simple approach to prenatal diagnosis of P-thalas-semia in a geographic area where multiple mutations occur. Blood 1988; 71: 1357–60.
   PubMed Web of Science ®Google Scholar
• Saiki RK, Walsh PS, Levenson CH, et al. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 1989; 86: 6230–4.
   PubMed Web of Science ®Google Scholar
• Maggio A, Giambona A, Cai S-P, et al. Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean P-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 1993; 81: 239–42.
   PubMed Web of Science ®Google Scholar
• Sylvester-Jackson DA, Page SL, White JM, etal. Unbiased analysis of the frequency of P-thalassemia point mutations in a population of African-American newborns. Arch Pathol Lab Med 1993; 117: 1110–4.
   PubMedGoogle Scholar
• Rosatelli MC, Tuveri T, Scales MT, et al. Molecular screening and fetal diagnosis of P-thalassemia in the Italian population. Hum Genet 1992; 89: 585–9.
   PubMed Web of Science ®Google Scholar
• Sutcharitchan P, Saiki R, Huisman THJ, etal. Reverse dot-blot detection of the African-American P-thalassemia mutations. Blood 1995; 86: 1580–5.
   PubMed Web of Science ®Google Scholar
• Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of P-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 1990; 336: 834–7.
   PubMed Web of Science ®Google Scholar
• Cai S-P, Eng B, Kan YW, et al. A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to P-thalassemia. Hum Genet 1991; 87: 728–30.
   PubMed Web of Science ®Google Scholar
• Romey M-C, Aguilar-Martinez P, Demaille J, et al. Rapid detection of single nucleotide deletions: application to the P6 (-A) mutation of the P-globin gene and to cystic fibrosis. Hum Genet 1993; 92: 627–8.
   PubMedGoogle Scholar
• Kan YW, Lee KY, Furbetta M, et al. Polymorphism of DNA sequence in the P-globin gene region. N Engl J Med 1980; 302: 185–8.
   PubMed Web of Science ®Google Scholar
• Boehm CD, Antonarakis SE, Phillips JA III, et al. Prenatal diagnosis using DNA polymorphisms. N Engl J Med 1983; 308: 1054–8.
   PubMed Web of Science ®Google Scholar
• Chang J-G, Lee L-S, Lin C-P, etal. Rapid diagnosis of a-thalassemia-1 of Southeast Asian type and hydrops fetalis by polymerase chain reaction. Blood 1991; 78: 853–4.
   PubMed Web of Science ®Google Scholar
• Huang S-Z, Rodgers GP, Zeng F-Y, et al. Diagnosis of thalassemia using cDNA amplification of circulating erythroid cell mRNA with the polymerase chain reaction. Blood 1991; 78: 2433–7.
   PubMed Web of Science ®Google Scholar
• Tang DC, Fucharoen S, Ding I, etal. Rapid differentiation of the common a-thalassemia genotypes by polymerase chain reaction. J Lab Clin Med 2001; 137: 290–5.
   PubMed Web of Science ®Google Scholar
• Shaji RV, Srivastava A, Chandy M, et al. A single tube multiplex PCR method to detect the common a+ thalassemia alleles. Blood 2000; 95: 1879–80.
   PubMed Web of Science ®Google Scholar
• Tan AS-C, Quah TC, Low PS, et al. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for a-thalassemia. Blood 2001; 98: 250–1.
   PubMed Web of Science ®Google Scholar
• Beris P, Darbellay R, Extermann P. Prevention of P-thalassemia major and Hb Bart's hydrops fetalis syndrome. Semin Hematol 1995; 32: 244–61.
   PubMed Web of Science ®Google Scholar
• Mitchell JJ, Capua A, Clow C, etal. Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and P-thalassemia disease carriers in high schools. Am J Hum Genet 1996; 59: 793–8.
   PubMed Web of Science ®Google Scholar
• Capua A. The Montreal thalassemia screening program. Ann NY Acad Sci 1998; 850: 401–3.
   PubMedGoogle Scholar
• Hendy J. Prevention of thalassemia in Australia. Southeast Asian J Trop Med Public Health5 1999; 30: 94–6.
   PubMedGoogle Scholar
• Sin SY, Ghosh A, Tang LCH, et al. Ten years' experience of antenatal mean corpuscular volume screening and prenatal diagnosis for thalassaemias in Hong Kong. J Obstet Gynaecol Res 2000; 26: 203–8.
   PubMedGoogle Scholar
• Modell B, Harris R, Lane B, et al. Informed choice in genetic screening for thalassemia during pregnancy: audit from a national confidential inquiry. Br Med J 2000; 320: 337–41.
   PubMed Web of Science ®Google Scholar
• Cao A, Pintus L, Lecca U, et al. Control of homozygous P-thalassemia by carrier screening and antenatal diagnosis in Sardinians. Clin Genet 1984; 26: 12–22.
   PubMedGoogle Scholar
• Cao A, Rosatelli MC, Galanello R. Population-based genetic screening. Curr Opin Genet Dev 1991; 1: 48–53.
   PubMed Web of Science ®Google Scholar
• Lorey FW, Arnopps J, Cunningham GC. Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state. Genet Epidemiol 1991; 13: 501–12.
   Google Scholar
• Lorey F. Asian immigration and public health in California: thalassemia in newborns in California. J Pediatr Hematol Oncol 2000; 22: 564–6.
   PubMed Web of Science ®Google Scholar
• Shafer FE, Lorey F, Cunningham GC, et al. Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program. J Pediatr Hematol Oncol 1996; 18: 36–41.
   PubMed Web of Science ®Google Scholar
• Old JM, Olivieri NF, Thein SL. Avoidance and population control. In: Weatherall DJ, Clegg JB, Eds. The thalassaemia syndromes 4th ed. Pp. 597-629. London: Blackwell Sciences, 2001.
   Google Scholar
• Pafumi C, Moschetto A, Pernicone G, et al. Screening for beta-thalassemia heterozygotes in pregnant women. J Pediatr Endocrinol Metabol 1998; 11(Suppl 3)</b>: 993.
   Google Scholar
• Hendy JG, Monagle PT, Bowden DK. Antenatal screening and prenatal diagnosis of thalassaemia. Med J Aust 1999; 170: 621–4.
   PubMedGoogle Scholar
• Rogers M, Phelan L, Bain B. Screening criteria for P thalassaemia trait in pregnant women. J Clin Pathol 1995; 48: 1054–6.
   PubMedGoogle Scholar
• Chan LC, Ma SK, Chan AYY, et al. Should we screen for globin chain mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassemia? J Clin Pathol 2001; 54: 317–20.
   PubMed Web of Science ®Google Scholar
• Modell M, Modell B. Genetic screening for ethnic minorities Br Med J 1990; 300: 1702–4.
   Google Scholar
• Dumars KW, Boehm C, Eckman JR, et al. Practical guide to the diagnosis of thalassemia. Am J Med Genet 1996; 62: 29–37.
   PubMed Web of Science ®Google Scholar
• Eldibany MM, Totonchi KF, Joseph NJ, et al. Usefulness of certain red blood cell indices in diagnosing and differentiating thalassemia trait from iron-deficiency anemia. Am J Clin Pathol 1999; 111: 676–82.
   PubMed Web of Science ®Google Scholar
• Indaratna K. Screening for thalassemia: an economics viewpoint. Southeast Asian J Trop Med Public Health 1997; 28: 75–81.
   PubMedGoogle Scholar
• Cao A, Saba L, Galanello R, et al. Molecular diagnosis and carrier screening for P thalassemia. JAMA 1997; 278: 1273–7.
   PubMed Web of Science ®Google Scholar
• Steiner-Grossman P, David KL. Involvement of rabbis in counseling and referral for genetic conditions: Results of a survey. Am J Hum Genet 1993; 53: 1359–65.
   PubMedGoogle Scholar
• Kronn D, Jansen V, Ostrer H. Carrier screening for cystic fibrosis, Gaucher disease and Tay-Sachs disease in the Ashkenazi Jewish Population. Arch Intern Med 1998; 158: 777–81.
   PubMedGoogle Scholar
• Abeliovich D, Quint A, Einberg N, et al. Cystic fibrosis heterozygote screening in the orthodox community of Ashkenazi Jews: The Dor Yeshorim approach and heterozygte frequency. Eur J Hum Genet 1996; 4: 338–41.
   PubMedGoogle Scholar