Abstract
to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.
Highlights
The term sickle cell disease refers to the group of hemoglobinopathies related to a genetic and hereditary alteration in hemoglobin S (HbS), which modifies the shape of red blood cells
It may occur in the homozygous form, causing sickle cell anemia (HbSS), but it can occur from the combination of HbS with other altered types of hemoglobin such as hemoglobin C (HbSC), hemoglobin D (HbSD) and beta-thalassemia (Hb S/β Th)(1)
We only discovered the trait after she performed the Heel Prick Test, so I already commented with several relatives, but nobody went to find out, so I have no idea if it already existed in the family
Summary
The term sickle cell disease refers to the group of hemoglobinopathies related to a genetic and hereditary alteration in hemoglobin S (HbS), which modifies the shape of red blood cells. Sickle cell disease only has the possibility of cure through the transplantation of related allogeneic hematopoietic stem cells, as established by the Ministry of Health, in Ordinance 298 of February 9, 2018(3). In this sense, it is important that the disease is detected in the family, in order to avoid its heredity through genetic counseling, for the prevention of complications, increased survival, improvement of quality of life and control of disease frequency[5]. The prevalence of HbAS is higher in the north and northeast, between 6% and 10%, while in the south and southeast, only 2% to 3% of the population is reached[6], justified by the haplotypes transmitted by the black population coming from Africa, enslaved in the sugarcane crops in the northeast in the extraction of precious metals in Minas Gerais[7]
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