Care of patients with haemoglobin abnormalities: history and biology

Abstract

Haemoglobinopathies refer to a range of genetically inherited disorders of red blood cell haemoglobin and include sickle cell disorders and thalassaemias. They occur most commonly in populations whose ancestors come from Africa, Asia, Mediterranean Islands, and the Middle and Far East. Haemoglobin (Hb) abnormalities (or haemoglobinopathies) are caused by (i) abnormalities of the protein structure; (ii) imbalanced globin chain production owing to reduced rate of synthesis of normal a or b globin chains; or (iii) a combination of the two. This article will focus on the biological basis of sickle cell disorders and will discuss the history and pathology of the conditions.

The genetics of blood disorders: the hereditary hemoglobinopathies

“…As principais, do ponto de vista clínico, são as doenças falciformes (DF) e a talassemia β, que acometem populações originárias do continente africano, da Região Mediterrânea, do Sudeste Asiático e do Oriente Médio e Extremo Oriente 8 . Cerca de 1-2% da população mundial é composta de heterozigotos da Hb S e 3% de heterozigotos da talassemia β 9 .…”

Aspectos De Interesse Relacionados À Anemia Falciforme

“…Os cálculos biliares são múltiplos e em 60 % dos casos são radiopacos. Podem ser assintomáticos por muito tempo ou causar sintomas crônicos como empaxamento, náuseas, vômitos e dor no quadrante superior direito (KHATTAB et al, 2006).…”

Genética das doenças hematológicas: as hemoglobinopatias hereditárias

“…7 The most significant of these from a clinical point of view are the sickle cell diseases (SCD) and β-thalassemia, which affect populations with origins in Africa, the Mediterranean region, Southeast Asia, the Middle East and the Far East. 8 Around 1-2% of the global population are heterozygous for Hb S and 3% are heterozygous for β-thalassemia. 9 Historically, the majority of children who were carriers of these diseases died during their first 10 years of life from complications.…”