The genetics of blood disorders: the hereditary hemoglobinopathies

Abstract

ResumoObjetivo: Sumarizar os dados disponíveis na literatura recente sobre os aspectos fisiopatológicos, de diagnóstico e tratamento das doenças falciformes e da talassemia β, hemoglobinopatias hereditárias de maior relevância nas populações. Fontes dos dados AbstractObjective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population.Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings:More than 2,000 articles were identified; those providing the most important information and broadest views were selected.Conclusions: Morbidity and mortality rates from sickle cell diseases and β-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases.

Spectrum of hemoglobinopathies by high performance liquid chromatography with special reference to role of HbA2 levels at tertiary care centre

“…Other studies also reported maximum report of cases of sickle cell disorder in mahar caste (11.08%) by Bhaskar et al and Ambekar S.S. et al reported maximum cases of beta thalassaemia amongst Navbuddhas. 8,9 In the present study splenomegaly was found most common in the patients of β-thalassemia major (83.33%) followed by sickle-Beta thalassemia (15 cases), sickle cell Anemia (2) and sickle cell trait (4).…”

“…1,2 Sickle cell gene is widely spread in the district of Eastern Maharashtra, North Maharashtra and some parts of Marathwada region. [2][3][4] Laboratory Diagnosis of Hemoglobin disorders is required for confirmation of provisional Diagnosis of significant sickling disorders and beta thalassemia major, explain hematological abnormalities and permit genetic counselling of prospective parents. Present study is aimed at speculating the spectrum of hemoglobinopathies and significance of role of HbA2 levels in diagnosis of hemoglobinopathies and thalassemias.…”

Craniofacial features of patients with sickle cell anemia and sickle cell trait

“…Studies have found a greater susceptibility to oxidation of HbS in these children, regardless of their genotype or its concentration, compared with oxidation of hemoglobin A. 1,6 HbS has certain chemical characteristics: in situations of absence or reduction of oxygen tension it becomes unstable, does not support physical changes, and forms crystals. The red blood cell (RBC) bends and shapes in the form of sickle.…”

“…1 Sickle cell anemia (SCA), one of these most common diseases worldwide, reaches a significant portion of the population. [2][3][4] It is caused by a mutation in the beta globin gene of hemoglobin, which leads to an abnormal hemoglobin called hemoglobin S (HbS).…”

Prevalência de patologias detectadas pela triagem neonatal em Santa Catarina

“…Afetam, aproximadamente, 7% da população mundial, sendo as mais frequentes e clinicamente significativas as variantes estruturais para as hemoglobinas S e C, que acometem principalmente populações originárias do Continente Africano, da Região Mediterrânea, do Sudeste Asiático, do Oriente Médio e Extremo Oriente (18,19). As principais complicações clínicas na Anemia Falciforme incluem a anemia hemolítica crônica, episódios dolorosos e intermitentes de vaso-oclusão, risco permanente de infecções como resultado de autoinfarto esplênico, acidentes vasculares cerebrais, retinopatia e danos cumulativos em múltiplos órgãos (19,20). Além da triagem neonatal dessa hemoglobinopatia, o Ministério da Saúde também destaca a importância da detecção precoce da hemoglobinopatia C e de α e β talassemias pelos Programas de Triagem Neonatal (3).…”