Clinical and hematological profile in a newborn cohort with hemoglobin SC

Abstract

Clinical severity is variable in SC hemoglobinopathy. Several children have severe manifestations similar to those with SS disease.

Bilateral tractional retinal detachment in hemoglobin SC disease patient

“…Common features of the disease include anemia, hemolysis, and a spectrum of complications that affect multiple organs. (4) Hemoglobin SC is the second most common variant of sickle-cell disease worldwide, after HbSS. It is caused by a mutation in the sixth codon of the beta globin gene, which results in the substitution of glutamic acid by lysine (GAG > AAG).…”

“…It is caused by a mutation in the sixth codon of the beta globin gene, which results in the substitution of glutamic acid by lysine (GAG > AAG). (4) Thus, the double heterozygous variant, HbSC, is associated with an increased frequency of ophthalmic complications, including PSCR. (5) Despite sickle cell hemoglobinopathy with the greatest number of clinical manifestations being the SS type, which leads to hemolysis and sickling crises, patients of the SC genotype, who rarely present systemic changes, are usually those with the most severe retinal manifestations.…”

HbSC disease: A time for progress

“…HbSC disease has traditionally been considered “milder” than sickle cell anemia 10 . The estimated probability of death by age 10 years is 5.4%, 11 and the median survival in resource‐rich countries has risen to 80 years 12 . Hemolytic anemia is attenuated compared with sickle cell anemia and acute vasoocclusive events like pain and acute chest syndrome occur about half as often 13,14 .…”

Prevalência de beta-talassemias em pacientes com anemia falciforme em quatro estados do Brasil

“…A hemoglobinopatia SC (HbSC) surge a partir da co-herança dos genes das hemoglobina S (HbS) e hemoglobina C (HbC), apresentando o estado heterozigótico em níveis semelhantes aos de HbS e HbC (Rezende et al 19 , Colella et al 20 ), doença apresenta como causa a substituição do ácido glutâmico pela valina na posição 6, dando origem à…”

“…Em situações de hipóxia dos eritrócitos, a fisiopatologia da doença tem como principal característica a formação de cristais, em decorrência da concentração da HbC (Rezende et al 19 , Colella et al 20 ) e a polimerização, em decorrência da concentração de HbS, o que resulta em hemácias mais densas, microcíticas, hipercrômicas e em aumento da concentração de hemoglobina corpuscular média, obstruindo a microcirculação (Pecker et al 21 ).…”