Newborn screening for hemoglobinopathies in California

Newborn screening (NBS) for hemoglobinopathies facilitates early identification of affected individuals to ensure the prompt institution of comprehensive medical care for affected newborns in California. When linked to extensive follow‐up and education, NBS has been shown to significantly reduce mortality in children with sickle cell disease. Due to changing immigration patterns from Asia and Latin America, the State of California has witnessed an increased prevalence of clinically significant hemoglobin (Hb) disorders, including those resulting from novel genotypes. In 1999, newborn screening for Hb H disorders was incorporated in the statewide hemoglobinopathy screening program.

[1]  G. Patrinos,et al.  An Overview of Current Microarray-Based Human Globin Gene Mutation Detection Methods , 2007, Hemoglobin.

[2]  R. Galanello,et al.  Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes , 2007, British journal of haematology.

[3]  E. Vichinsky.  Hemoglobin e syndromes. , 2007, Hematology. American Society of Hematology. Education Program.

[4]  A. Kemper,et al.  Primary Care Physicians' Attitudes Regarding Follow-up Care for Children With Positive Newborn Screening Results , 2006, Pediatrics.

[5]  S. Wiangnon,et al.  Development of Severe Anemia During Fever Episodes in Patients With Hemoglobin E Trait and Hemoglobin H Disease Combinations , 2006, Journal of pediatric hematology/oncology.

[6]  E. Vichinsky,et al.  Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease , 2005, Pediatrics.

[7]  M. H. Farrell,et al.  Content of Communication by Pediatric Residents After Newborn Genetic Screening , 2005, Pediatrics.

[8]  V. Chan,et al.  Hemoglobin H disease: not necessarily a benign disorder. , 2003, Blood.

[9]  H. Witkowska,et al.  Hb H hydrops foetalis syndrome: a case report and review of literature , 2001, British journal of haematology.

[10]  H. Witkowska,et al.  Universal newborn screening for Hb H disease in California. , 2001, Genetic testing.

[11]  E. Vichinsky,et al.  Changing outcome of homozygous alpha-thalassemia: cautious optimism. , 2000, Journal of pediatric hematology/oncology.

[12]  V. Chan,et al.  Genetic and clinical features of hemoglobin H disease in Chinese patients. , 2000, The New England journal of medicine.

[13]  E. Vichinsky,et al.  Sickle-cell disease not identified by newborn screening because of prior transfusion. , 2000, The Journal of pediatrics.

[14]  D. Chui,et al.  PCR‐based diagnosis of the Filipino (−−FIL) and Thai (−−THAI) α‐thalassemia‐1 deletions , 2000 .

[15]  D. Chui,et al.  PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions. , 2000, American journal of hematology.

[16]  J. Stoker,et al.  The Department of Health and Human Services. , 1999, Home healthcare nurse.

[17]  B. Glader,et al.  Hematologic disorders in children from southeast Asia. , 1996, Pediatric clinics of North America.

[18]  J. Eastman,et al.  Automated HPLC screening of newborns for sickle cell anemia and other hemoglobinopathies. , 1996, Clinical chemistry.

[19]  E. Vichinsky,et al.  Newborn Screening for Sickle Cell Disease: 4 Years of Experience from California's Newborn Screening Program , 1996, Journal of pediatric hematology/oncology.

[20]  Alfred O. Berg,et al.  Sickle Cell Disease: Screening, Diagnosis, Management, And Counseling In Newborns And Infants , 1994, The Journal of the American Board of Family Medicine.

[21]  E. Vichinsky,et al.  Universal Screening for Hemoglobinopathies Using High-Performance Liquid Chromatography: Clinical Results of 2.2 Million Screens , 1994, European journal of human genetics : EJHG.

[22]  E. Vichinsky,et al.  Detection of Hb E/beta-thalassemia versus homozygous EE using high-performance liquid chromatography results from newborns. , 1993, Biochemical medicine and metabolic biology.

[23]  S. Binder,et al.  An automated system for sickle cell screening. , 1990, American clinical laboratory.

[24]  E. Vichinsky,et al.  Newborn screening for sickle cell disease: effect on mortality. , 1988, Pediatrics.

[25]  D. Higgs,et al.  Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL). , 1988, British journal of haematology.

[26]  T. Huisman,et al.  Rapid cation-exchange high-performance liquid chromatographic procedure for the separation and quantitation of hemoglobins S, C, and O Arab in cord blood samples. , 1986, The Journal of laboratory and clinical medicine.

[27]  E Vichinsky,et al.  Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. , 1986, The New England journal of medicine.

[28]  G. Serjeant,et al.  Early deaths in Jamaican children with sickle cell disease. , 1978, British medical journal.