Thesis (M.S.)--University of Michigan, 1975.

Thesis (M.S.)--University of Michigan, 1975.

Sickle cell disease (SCD) is a chronic, lifelong, often debilitating, inherited disorder that can affect every organ system. Affected individuals often experience repetitive pain crises, multiple hospitalizations and a diminished quality of life. Many people at risk for SCD are unaware of their sickle cell carrier status and surprisingly health care providers’ knowledge of SCD is limited. Research literature focuses mainly on management of clinical manifestations of the disease. This systematic review and integrative qualitative meta-synthesis aims to capture parents’ perspectives on the screening process and diagnosis of SCD or sickle cell trait (SCT). Information generated by this review will be helpful in contributing to the development or enhancement of guidelines and protocols in SCD and SCT management for health care providers and health care educators. / Thesis / Master of Science (MSc)

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Thesis (M.A.)--Boston University / PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you. / Sickle cell disease (SCD) is an autosomal recessive disorder affecting over 70,000 people in the United States. Following deoxygenation, red blood cells become deformed and appear in the characteristic sickle-shape. This change in protein structure leads to vasa-occlusive episodes, which may result in a variety of clinical manifestation including, but not limited to, painful crisis, stroke, acute chest syndrome, and/or splenic infarct. Due to the diversity of symptoms, management of this disease can be complex.In SCD, some of the treatment modalities involve controlling infections, pain management, fetal hemoglobin stimulation, blood transfusion, hematopoietic stem cell transplant and potentially gene therapy. This paper discusses the risk and benefits of these different treatment modalities. / 2999-01-01

Thesis (Ph.D.)--Boston University / PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you. / The variability of clinical severity in sickle cell anemia patients has been attributed in part to fetal hemoglobin (HbF) expression. Hereditary persistence of fetal hemoglobin (HPFH) describes benign disorders that are characterized by increased y-globin chain expression often with a reduction or absence of B-globin chain expression. HPFH can be due to naturally occurring deletions at the 3' end of the B-globin locus. Variable size deletions that remove alpha(HBO) and B(HBB) globin genes result in HPFH and alphaB-thalassemia. We examined clinical and hematology data in 28 patients with sickle hemoglobin (HbS)/HPFH. We found HbS/HPFH patients did not have anemia, and had slightly reduced mean corpuscular volume (MCV). Their age, hemoglobin and MCV were found to be correlated with HbF levels. These individuals were asymptomatic when compared to homozygous HbSS patients even with unusually high levels of HbF. Three major quantitative trait loci (QTL) significantly associated with HbF levels in individuals from different populations have been identified and include polymorphisms in the Gy-globin gene (HBG2) promoter, BCL 11A, and the HBS1 L-MYB intergenic region. We investigated polymorphisms in these QTL in a unique cohort of 20 African American patients with sickle cell anemia expressing HbF levels equal to or greater than 11%. We also found significant associations of HbF in 2 of the 3 major loci, BCL11A (rs766432) (P=0.05), and HBS1L-MYB intergenic region (rs9399137) (P= 0.02). A 3 basepair (bp) (TAG) deletion in high linkage disequilibrium with rs9399137 in the HBS1 L-MYB intergenic region might also account for high HbF expression. Two QTL influence HbF levels in African Americans with sickle cell anemia but together account for 20% of HbF variance [1]. Therefore to further explore possible causes of high HbF, we sequenced a 14.1 kilobases (kb) DNA fragment between Ay-globin gene (HBG1) and HBD in 15 high HbF and 15 low HbF patients. The DNA fragment houses the 7.2kb Corfu deletion that is associated with elevated HbF levels in the homozygous state and also contains binding sites for BCL11A. Thirty-eight single nucleotide polymorph isms (SNPs) were present in both groups of patients. Four SNPs had significantly higher major allele frequencies in the high HbF group (P<0.05) suggesting that polymorphisms in this area might contribute to elevated HbF levels in African American sickle cell anemia patients. / 2999-01-01

In a study of the natural history of homozygous sickle cell (SS) disease 154 of 160 Jamaican children in whom SS genotype had been diagnosed by cord blood haemoglobin electrophoresis were followed to age 1 to 5 years. Seventeen girls and five boys died. Severe bacterial infections and acute splenic sequestration (ASS) were the principal causes of death. The incidence of each of these complications of SS disease was studied in relation to the natural history of splenomegaly and of splenic reticuloendothelial function. Splenomegaly was assessed by physical examination at each clinic visit. 37&percnt; SS children had had palpable spleens by age 6 months, 66&percnt; by age 12 months, 79&percnt; by age 24 months and 85&percnt; by age 36 months. Splenic reticuloendothelial function was assessed by estimating the percentage of pitted blood cells (pit count) using differential interference contrast microscopy. Pit counts in 139 control children with normal haeomoglobin genotype AA were always below 9&percnt;. Pit counts performed serially in 130 of the SS children (in 46 from birth) rose with age, and were greater than 9&percnt; in 23 SS children at age 1 year, 42&percnt; at age 2 years and 52&percnt; at age 3 years. Radioactive colloid spleen scans showed no splenic uptake of colloid in 11 SS children with palpable spleens and pit counts greater than 9&percnt;, confirming impairment of their splenic reticuloendothelial activity.