title: Asymptomatic child heterozygous for hemoglobin S and hemoglobin Pôrto Alegre.
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.
authors.affiliation: Hematology Division, Department of Pediatrics, UPR School of Medicine, San Juan, Puerto Rico. lilianalojo@hotmail.com
authors.forename: Liliana
authors.initials: L
authors.lastname: Lojo
authors.forename: Pedro
authors.initials: P
authors.lastname: Santiago-Borrero
authors.forename: Enid
authors.initials: E
authors.lastname: Rivera
authors.forename: Jessicca
authors.initials: J
authors.lastname: Renta
authors.forename: Carmen L
authors.initials: CL
authors.lastname: Cadilla
mesh_terms: D004247:DNA / Q000032:analysis / Q000235:genetics; D004912:Erythrocytes / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D017701:Reticulocyte Count
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D004247:DNA; C034991:hemoglobin Porto Alegre