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Page 1
Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience.
Kumar R, Panigrahi I, Dalal A, Agarwal S. Kumar R, et al. Indian J Pediatr. 2012 Jan;79(1):68-74. doi: 10.1007/s12098-011-0510-1. Epub 2011 Jun 29. Indian J Pediatr. 2012. PMID: 21713598
METHODS: The authors studied the genotype in 47 individuals with increased HbS and three representative families were taken as an example for describing various issues which need to be sorted out for appropriate counseling. RESULTS: Of 47 individuals 24 were S beta …
METHODS: The authors studied the genotype in 47 individuals with increased HbS and three representative families were taken as an example fo …
Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
Upadhye DS, Jain DL, Trivedi YL, Nadkarni AH, Ghosh K, Colah RB. Upadhye DS, et al. PLoS One. 2016 Jan 19;11(1):e0147081. doi: 10.1371/journal.pone.0147081. eCollection 2016. PLoS One. 2016. PMID: 26785407 Free PMC article.
Of 2134 newborns screened, 104 were sickle homozygous (SS), seven had sickle beta-thalassemia (S-beta thal) and 978 were sickle heterozygous (AS). The other hemoglobin abnormalities detected included HbS-deltabeta thalassemia-1, HbSD disease-2, …
Of 2134 newborns screened, 104 were sickle homozygous (SS), seven had sickle beta-thalassemia (S-beta thal) and …
Demographics and outcomes of hemoglobin genotype in hospitalized patients with COVID-19 and sickle cell disease in the United States.
Ilerhunmwuwa NP, Inyang L, Wasifuddin M, Aiwuyo H, Tahir M, Hakobyan N, Ankah P, Torere BE, Amaechi UM, Rayapureddy AK, Wang JC. Ilerhunmwuwa NP, et al. Eur J Haematol. 2023 Oct;111(4):611-619. doi: 10.1111/ejh.14054. Epub 2023 Jul 21. Eur J Haematol. 2023. PMID: 37477175
Study outcomes (invasive mechanical ventilation, extracorporeal membrane oxygenation, shock, vasopressor use, measures of resource utilization, and in-hospital mortality) were compared between hemoglobin SS, SC, and S-beta thalassemia (Sbeta). RESULTS: Of the …
Study outcomes (invasive mechanical ventilation, extracorporeal membrane oxygenation, shock, vasopressor use, measures of resource utilizati …
Neonatal screening for hemoglobinopathies: results of a public health system in South Brazil.
Wagner SC, de Castro SM, Gonzalez TP, Santin AP, Zaleski CF, Azevedo LA, Dreau H, Henderson S, Old J, Hutz MH. Wagner SC, et al. Genet Test Mol Biomarkers. 2010 Aug;14(4):565-9. doi: 10.1089/gtmb.2010.0008. Genet Test Mol Biomarkers. 2010. PMID: 20722469
These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/beta thalassemia, 1 Hb SD), 1 neonate who was homozygous for beta thalassemia, 6272 (1.4%) newborns who were heterozygous for Hb S, C, or …
These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/beta thalassemia, 1 …
Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017.
Sontag MK, Yusuf C, Grosse SD, Edelman S, Miller JI, McKasson S, Kellar-Guenther Y, Gaffney M, Hinton CF, Cuthbert C, Singh S, Ojodu J, Shapira SK. Sontag MK, et al. MMWR Morb Mortal Wkly Rep. 2020 Sep 11;69(36):1265-1268. doi: 10.15585/mmwr.mm6936a6. MMWR Morb Mortal Wkly Rep. 2020. PMID: 32915168 Free PMC article.
.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (3 …
.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, …
New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios.
Allaf B, Patin F, Elion J, Couque N. Allaf B, et al. Pediatr Blood Cancer. 2018 Sep;65(9):e27230. doi: 10.1002/pbc.27230. Epub 2018 May 21. Pediatr Blood Cancer. 2018. PMID: 29781571
The purpose of this study was to determine cutoff values to standardize quantitative interpretation in SCD NBS for different clinical situation such as, red blood cell transfusion or beta-thalassemia, which can be real screening pitfalls. METHODS: Retrospective stud …
The purpose of this study was to determine cutoff values to standardize quantitative interpretation in SCD NBS for different clinical situat …
Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.
Basran RK, Patterson M, Walker L, Nakamura LM, Eng B, Chui DH, Waye JS. Basran RK, et al. Ann N Y Acad Sci. 2005;1054:507-10. doi: 10.1196/annals.1345.052. Ann N Y Acad Sci. 2005. PMID: 16339708
Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia or hemoglobin (Hb) E/beta-thalassemia, 211 (31%) for homozygous alpha 0-thala …
Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) …
Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program.
Shafer FE, Lorey F, Cunningham GC, Klumpp C, Vichinsky E, Lubin B. Shafer FE, et al. J Pediatr Hematol Oncol. 1996 Feb;18(1):36-41. doi: 10.1097/00043426-199602000-00007. J Pediatr Hematol Oncol. 1996. PMID: 8556368
RESULTS: Of these 2 million infants screened, 492 were diagnosed with some form of sickle cell disease; 290 (58.9%) were diagnosed with hemoglobin SS, 143 (29.0%) were diagnosed with hemoglobin SC, and 47 (9.5%) were diagnosed with S beta+thalassemia. CONCLUS …
RESULTS: Of these 2 million infants screened, 492 were diagnosed with some form of sickle cell disease; 290 (58.9%) were diagnosed with hemo …
Newborn screening for sickle cell disease: effect on mortality.
Vichinsky E, Hurst D, Earles A, Kleman K, Lubin B. Vichinsky E, et al. Pediatrics. 1988 Jun;81(6):749-55. Pediatrics. 1988. PMID: 3368274
Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-beta +-thalassemia, and three hemoglobin S-beta …
Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births …
Profile of Reproductive Issues Associated with Different Sickle Cell Disease Genotypes.
Carvalho FA, Souza AI, Ferreira ALCG, Neto SDS, Oliveira ACPL, Gomes MLRP, Costa MFH. Carvalho FA, et al. Rev Bras Ginecol Obstet. 2017 Aug;39(8):397-402. doi: 10.1055/s-0037-1604179. Epub 2017 Jul 6. Rev Bras Ginecol Obstet. 2017. PMID: 28683515 Free PMC article.
Purpose To describe the reproductive variables associated with different sickle cell disease (SCD) genotypes and the influence of contraceptive methods on acute painful episodes among the women with the homozygous hemoglobin S (HbSS) genotype. Methods A cross-sectional stu …
Purpose To describe the reproductive variables associated with different sickle cell disease (SCD) genotypes and the influence of contracept …
14 results