RESUMO
Fetal and neonatal hemolytic anemia can be caused by (γδß)(0)-thalassemia deletions of the ß-globin gene cluster. Many of these deletions have not been well characterized, and diagnostic tests are not readily available, thus hampering carrier detection, family counseling, and antenatal diagnosis. We report and define a 198 kb deletion removing the entire ß-globin gene cluster, which was found in members of a multigeneration family of Irish/Scottish descent. The proband had life-threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age.
Assuntos
Anemia Hemolítica Congênita/genética , Doenças Fetais/genética , Deleção de Genes , Família Multigênica , Globinas beta/genética , Adulto , Anemia Hemolítica Congênita/terapia , Feminino , Doenças Fetais/terapia , Humanos , Lactente , Recém-Nascido , GravidezRESUMO
The b-globin gene LCR is located approximately 6 kb upstream of the embryonic epsilon-globin gene, and is made up of five DNase I hypersensitive sites (HSs), HS 1-5. LCR plays a pivotal role in regulating the expression of downstream epsilon-, (G)gamma-, (A)gamma-, delta-, and beta-globin genes in cis [1]. Deletions removing the LCR and parts of the downstream beta-globin gene cluster in patients have been described [2]. These individuals present with a (gammadeltabeta)0-thalassemia carrier phenotype. We now report two patients with severe sickle cell disease who were compound heterozygous for Hb S mutation and novel LCR deletion. In one case, HS 1-3 were deleted; in the other, HS 1-5 were deleted. In both cases, the b-like globin genes in cis to the LCR deletions were intact. Genotypically, both patients appeared to have sickle cell trait. Coinherited with either LCR deletion, these individuals presented as sickle cell disease patients. The breakpoints of these LCR deletions were defined. These results affirm that HS 2 and 3 are primarily responsible for conferring erythroid specific high-level expression of cis-linked beta-like globin genes. Furthermore, LCR deletions might cause hemolytic disease of newborns.
Assuntos
Anemia Falciforme/genética , Hemoglobina Falciforme/genética , Globinas beta/genética , Adolescente , Criança , Feminino , Heterozigoto , Humanos , Masculino , Família Multigênica , Deleção de SequênciaRESUMO
Blood product transfusion is one of the most common invasive procedures performed in the health care setting. In contrast to pharmaceuticals, blood is actually a liquid transplant. Transfusion complications consequently encompass complex biological processes and infectious possibilities. Changes in vital signs are regularly seen during transfusion. Knowledge of common transfusion reaction signs and symptoms enables the clinical team to differentiate a normal patient response from a life-threatening reaction. Direct care nurses responsible for this procedure play a vital role in its success. Understanding the possible complications of transfusion and how to quickly recognize reactions at the bedside helps ensure the best patient outcomes.