RESUMO
Allogeneic HSCT is the only curative treatment for SCD. In this study, we estimated the number of Saudi patients with SCD who are candidates for HSCT. We used the presence of overt stroke, recurrent ACS, and frequent severe pain crisis as indications for HSCT. We calculated the frequencies of these complications among a Saudi SCD cohort of 376 patients with SCD, 250 from SW and 126 from Eastern (E) provinces. We found that 59 (23.6%) of SW patients were transplant candidates compared to 22 (17.4%) from E province. It is estimated that about 61 000 patients with SCD live in Saudi Arabia. Thus, the projected number of Saudi patients with SCD who are candidates for HSCT is 10 536 patients. Of those, 2148 are children. The burden of SCD on HSCT centers in Saudi Arabia is substantial and is difficult currently to meet the demand. We recommend recruiting/training more transplant physicians and nurses, expand current capacity of centers if feasible, and open new transplant centers to make HSCT a practical therapeutic option for patients with severe SCD in Saudi Arabia.
Assuntos
Anemia Falciforme/terapia , Transplante de Células-Tronco Hematopoéticas , Avaliação das Necessidades , Seleção de Pacientes , Adolescente , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Criança , Pré-Escolar , Efeitos Psicossociais da Doença , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Arábia Saudita/epidemiologia , Adulto JovemRESUMO
Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) ß-globin gene (HBB) cluster haplotype. In this haplotype of sickle cell anemia, fetal hemoglobin (HbF) levels are 3-4 fold higher than those found in patients with HbS haplotypes of African origin. Little is known about the genetic elements that modulate HbF in AI haplotype patients. We therefore studied Saudi HbS homozygotes with the AI haplotype (mean HbF 19.2±7.0%, range 3.6 to 39.6%) and employed targeted genotyping of polymorphic sites to explore cis- and trans- acting elements associated with high HbF expression. We also described sequences which appear to be unique to the AI haplotype for which future functional studies are needed to further define their role in HbF modulation. All cases, regardless of HbF concentration, were homozygous for AI haplotype-specific elements cis to HBB. SNPs in BCL11A and HBS1L-MYB that were associated with HbF in other populations explained only 8.8% of the variation in HbF. KLF1 polymorphisms associated previously with high HbF were not present in the 44 patients tested. More than 90% of the HbF variance in sickle cell patients with the AI haplotype remains unexplained by the genetic loci that we studied. The dispersion of HbF levels among AI haplotype patients suggests that other genetic elements modulate the effects of the known cis- and trans-acting regulators. These regulatory elements, which remain to be discovered, might be specific in the Saudi and some other populations where HbF levels are especially high.
Assuntos
Anemia Falciforme/genética , Hemoglobina Fetal/genética , Adolescente , Adulto , Alelos , Anemia Falciforme/metabolismo , Árabes/genética , Proteínas de Transporte/genética , Criança , Pré-Escolar , Hemoglobina Fetal/metabolismo , Proteínas de Ligação ao GTP/genética , Genes myb , Proteínas de Choque Térmico HSP70/genética , Haplótipos , Hemoglobina Falciforme/genética , Hemoglobina Falciforme/metabolismo , Proteínas de Homeodomínio/genética , Humanos , Fatores de Transcrição Kruppel-Like , Região de Controle de Locus Gênico , Pessoa de Meia-Idade , Mutação , Proteínas Nucleares/genética , Fatores de Alongamento de Peptídeos/genética , Polimorfismo Genético , Regiões Promotoras Genéticas , Proteínas Repressoras , Análise de Sequência de DNA , Fatores de Transcrição/genética , Adulto Jovem , Globinas beta/genética , Globinas beta/metabolismoRESUMO
A case of melanotic neuroectodermal tumor of infancy (MNTI) presenting as a soft tissue mass in the right arm of a 6-mo female child is discussed. The mass was diagnosed by fine-needle aspiration biopsy (FNAB) and confirmed by histological examination. This communication emphasizes the characteristic cytology of MNTI and discusses its significance in the context of this tumor occurring in the soft tissues. The cytology smears were distinctive in showing a dual population of small, rounded, undifferentiated cells and larger melanin-containing epithelial-like cells. It is the identification of the latter cells in the smears which differentiates this tumor from other round cell tumors of infancy and helps in the correct diagnosis by FNAB.