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Variations in both α-spectrin (SPTA1) and β-spectrin (SPTB) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
Neonatology. 2014; 105(1):1-4.N

Abstract

We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the α-spectrin gene (SPTA1) in the proband revealed two previously reported low-frequency heterozygous polymorphisms of unknown clinical significance and the α(LELY) allele. In addition, a novel heterozygous mutation was identified in exon 2 of the β-spectrin gene SPTB. No mutations were identified in ANK1 (ankyrin-1), SLC4A1 (band 3), EPB41 (band 4.1), or EPB42 (band 4.2).

Authors+Show Affiliations

Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, Utah, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24193021

Citation

Christensen, Robert D., et al. "Variations in Both Α-spectrin (SPTA1) and Β-spectrin (SPTB) in a Neonate With Prolonged Jaundice in a Family Where Nine Individuals Had Hereditary Elliptocytosis." Neonatology, vol. 105, no. 1, 2014, pp. 1-4.
Christensen RD, Nussenzveig RH, Reading NS, et al. Variations in both α-spectrin (SPTA1) and β-spectrin (SPTB) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Neonatology. 2014;105(1):1-4.
Christensen, R. D., Nussenzveig, R. H., Reading, N. S., Agarwal, A. M., Prchal, J. T., & Yaish, H. M. (2014). Variations in both α-spectrin (SPTA1) and β-spectrin (SPTB) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Neonatology, 105(1), 1-4. https://doi.org/10.1159/000354884
Christensen RD, et al. Variations in Both Α-spectrin (SPTA1) and Β-spectrin (SPTB) in a Neonate With Prolonged Jaundice in a Family Where Nine Individuals Had Hereditary Elliptocytosis. Neonatology. 2014;105(1):1-4. PubMed PMID: 24193021.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variations in both α-spectrin (SPTA1) and β-spectrin (SPTB) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. AU - Christensen,Robert D, AU - Nussenzveig,Roberto H, AU - Reading,N Scott, AU - Agarwal,Archana M, AU - Prchal,Josef T, AU - Yaish,Hassan M, Y1 - 2013/10/31/ PY - 2013/04/25/received PY - 2013/08/06/accepted PY - 2013/11/7/entrez PY - 2013/11/7/pubmed PY - 2014/10/1/medline SP - 1 EP - 4 JF - Neonatology JO - Neonatology VL - 105 IS - 1 N2 - We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the α-spectrin gene (SPTA1) in the proband revealed two previously reported low-frequency heterozygous polymorphisms of unknown clinical significance and the α(LELY) allele. In addition, a novel heterozygous mutation was identified in exon 2 of the β-spectrin gene SPTB. No mutations were identified in ANK1 (ankyrin-1), SLC4A1 (band 3), EPB41 (band 4.1), or EPB42 (band 4.2). SN - 1661-7819 UR - https://www.unboundmedicine.com/medline/citation/24193021/Variations_in_both_α_spectrin__SPTA1__and_β_spectrin__SPTB__in_a_neonate_with_prolonged_jaundice_in_a_family_where_nine_individuals_had_hereditary_elliptocytosis_ L2 - https://www.karger.com?DOI=10.1159/000354884 DB - PRIME DP - Unbound Medicine ER -