Asymptomatic child heterozygous for hemoglobin S and hemoglobin Pôrto Alegre.

Enviado por Carmen Lydia Cadilla el

Imagen de Carmen Lydia Cadilla
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TítuloAsymptomatic child heterozygous for hemoglobin S and hemoglobin Pôrto Alegre.
Publication TypeJournal Article
Year of Publication2011
AutoresLojo, L, Santiago-Borrero, P, Rivera, E, Renta, J, Cadilla, C
JournalPediatr Blood Cancer
Volume56
Issue3
Pagination458-9
Date Published2011 Mar
ISSN1545-5017
Palabras claveDNA, Erythrocytes, Female, Hemoglobin, Sickle, Hemoglobins, Abnormal, Heterozygote, Humans, Infant, Newborn, Mutation, Polymerase Chain Reaction, Prognosis, Reticulocyte Count
Abstract

Hemoglobin Pôrto Alegre (PA) is a rare hemoglobin resulting from a mutation in β9(A6)Ser → Cys. We describe an asymptomatic Puerto Rican female with combined heterozygosity for Hb PA and Hb S. Since birth, she has maintained normal hemoglobin, bilirubin, LDH levels, and reticulocyte count. Peripheral smear evaluation has revealed normal erythrocyte morphology with no changes suggestive of hemolysis. We conclude that the presence of Hb PA does not increase the risk of red blood cell sickling in patients who carry the Hb S mutation.
DOI10.1002/pbc.22501
Alternate JournalPediatr Blood Cancer
PubMed ID21225927
PubMed Central IDPMC3664055
Grant ListG12 RR003051 / RR / NCRR NIH HHS / United States
G12RR03051 / RR / NCRR NIH HHS / United States