The Natural History of Hb S/Hereditary Persistence of Fetal Hemoglobin in 13 Children from the State of Minas Gerais, Brazil.
Children with Hb S (HBB: c.20A > T)/hereditary persistence of fetal hemoglobin (Hb S/HPFH) have a mild clinical phenotype, but some complications have been reported. The natural history of Hb S/HPFH in children from the State of Minas Gerais, Brazil newborn cohort is described. Clinical and hematological data regarding participants' phenotypes were retrieved from medical records. The HPFH-1, HPFH-2, and HPFH-3 and α-thalassemia (α-thal) deletions were detected by gap-polymerase chain reaction (gap-PCR). Thirteen children were included, nine (69.2%) had the Hb S/HPFH-2 deletion, and four (30.8%) had Hb S/HPFH-1 deletion; 11 children (84.6%) had αα/αα, and two (15.4%) carried the αα/-α(3.7) (rightward) deletion. The mean concentration of total hemoglobin (Hb) and Hb F was 12.52 ± 0.56 g/dL and 42.31% ± 1.97%, respectively. Mild microcytosis and hypochromia were observed. We found acute clinical manifestations of sickle cell disease, such as acute chest syndrome (ACS) and acute pain crisis in four children; nine (69.2%) children were completely asymptomatic during the follow-up period. All children were classified as having low-risk transcranial Doppler (TDC). In conclusion, children with Hb S/HPFH have a mild clinical phenotype of sickle cell disease, although acute clinical manifestations may occur. High Hb F levels and absence of anemia are common hematological characteristics.
a Centro de Tecidos Biológicos de Minas Gerais, Fundação Hemominas , Lagoa Santa, Minas Gerais , Brasil.|b Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico , Universidade Federal de Minas Gerais (UFMG) , Belo Horizonte, Minas Gerais , Brasil.
André R
AR
Belisário
b Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico , Universidade Federal de Minas Gerais (UFMG) , Belo Horizonte, Minas Gerais , Brasil.|c Serviço de Pesquisa, Fundação Hemominas , Belo Horizonte, Minas Gerais , Brasil and.
Rahyssa R
RR
Sales
c Serviço de Pesquisa, Fundação Hemominas , Belo Horizonte, Minas Gerais , Brasil and.
Célia M
CM
Silva
d Departamento Básico - Área de Saúde , Universidade Federal de Juiz de Fora (UFJF) , Juiz de Fora, Minas Gerais , Brasil.
Cibele
C
Velloso-Rodrigues
b Faculdade de Medicina/Núcleo de Ações e Pesquisa em Apoio Diagnóstico , Universidade Federal de Minas Gerais (UFMG) , Belo Horizonte, Minas Gerais , Brasil.
Marcos Borato
MB
Viana
D000755:Anemia, Sickle Cell / Q000235:genetics; D001938:Brazil; D002648:Child; D015331:Cohort Studies; D005319:Fetal Hemoglobin / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D017384:Sequence Deletion; D012886:Skull / Q000000981:diagnostic imaging; D018608:Ultrasonography, Doppler
D006451:Hemoglobin, Sickle; D005319:Fetal Hemoglobin
Hereditary persistence of fetal hemoglobin (HPFH); natural history; sickle cell disease; transcranial Doppler (TDC) ultrasonography