Abstract

In the current center cycle, we have designed and began to implement a pilot newborn screening program for sickle cell disease in Ghana, a developing nation in tropical Africa. The program has been incorporated into the public health system and has received great support from public health officials and the people of Kumasi, the site of the project. By design, the project was initially planned to take advantage of the existing public health system. As expected, babies born outside the system as not being tested. The second phase propose to extend the screening program to babies born outside the public health system. Also by design, the initial project did not have a genetic counseling component. We now pro[pose to develop and evaluate a model program of genetic counseling that will be sensitive to the cultural, ethical and religious beliefs of the people whose babies are being tested. We will also evaluate the feasibility of faster, DNA based methods of diagnosis in the screening program that may help improve our follow-up rate.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Comprehensive Center (P60)
Project #
5P60HL038632-15
Application #
6600035
Study Section
Project Start
2002-04-01
Project End
2003-03-31
Budget Start
Budget End
Support Year
15
Fiscal Year
2002
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104

  Publications

Ballas, Samir K; Connes, Philippe; Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia (2018) Rheological properties of sickle erythrocytes in patients with sickle-cell anemia: The effect of hydroxyurea, fetal hemoglobin, and ?-thalassemia. Eur J Haematol 101:798-803
Kwiatkowski, Janet L; Zimmerman, Robert A; Pollock, Avrum N et al. (2009) Silent infarcts in young children with sickle cell disease. Br J Haematol 146:300-5
Adachi, Kazuhiko; Ding, Min; Asakura, Toshio et al. (2009) Relationship between beta4 hydrogen bond and beta6 hydrophobic interactions during aggregate, fiber or crystal formation in oversaturated solutions of hemoglobin A and S. Arch Biochem Biophys 481:137-44
Kiryu, Shigeru; Sundaram, Tessa; Kubo, Shigeto et al. (2008) MRI assessment of lung parenchymal motion in normal mice and transgenic mice with sickle cell disease. J Magn Reson Imaging 27:49-56
Niebanck, Alison E; Pollock, Avrum N; Smith-Whitley, Kim et al. (2007) Headache in children with sickle cell disease: prevalence and associated factors. J Pediatr 151:67-72, 72.e1
Uematsu, Hidemasa; Takahashi, Masaya; Hatabu, Hiroto et al. (2007) Changes in T1 and T2 observed in brain magnetic resonance imaging with delivery of high concentrations of oxygen. J Comput Assist Tomogr 31:662-5
Obata, Kazuo; Mattiello, Julian; Asakura, Kenji et al. (2006) Exposure of blood from patients with sickle cell disease to air changes the morphological, oxygen-binding, and sickling properties of sickled erythrocytes. Am J Hematol 81:26-35
Akbar, Mohammed G K; Tamura, Yutaka; Ding, Min et al. (2006) Inhibition of hemoglobin S polymerization in vitro by a novel 15-mer EF-helix beta73 histidine-containing peptide. Biochemistry 45:8358-67
Adachi, Kazuhiko; Ding, Min; Surrey, Saul et al. (2006) The Hb A variant (beta73 Asp-->Leu) disrupts Hb S polymerization by a novel mechanism. J Mol Biol 362:528-38
Asakura, Toshio; Asakura, Kenji; Obata, Kazuo et al. (2005) Blood samples collected under venous oxygen pressure from patients with sickle cell disease contain a significant number of a new type of reversibly sickled cells: constancy of the percentage of sickled cells in individual patients during steady state. Am J Hematol 80:249-56

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