Haemoglobinopathies
Bain (2011) defined Haemoglobinopathies as diseases caused by inherited globin synthesis disorders and thus affects the haemoglobin protein of the blood and its function. It can be argued that haemoglobinopathies are the most common gene recessive disorders in the world (Streetly and Dick 2005). In Australia, the increase of cases with haemoglobinopathies disorder is due to immigration of ethnicities that belongs in the risk list (Metcalfe, Barrow-Stewart and Campbell 2007). Risk population includes those with Chinese ethnicity, South East Asian, Black Africans, Mediterranean and other various European communities (Trent 2006).
Haemoglobinopathies are categorized into two groups and can either be caused by the reduced …show more content…
Individuals carrying a pair of the mutated gene or is homozygous may then end up with chronic haemolytic anaemia. It also causes recurrent blockages to the blood vessels that are detrimental to vital organs of the body including the heart, kidney and brains (Metcalfe, Barrow-Stewart and Campbell 2007). Observable symptoms include severe pain, neurological, respiratory and renal problems and acute anaemia (Howard and Davies …show more content…
This is to evaluate if they are carriers of the disease, to know the risk rate and type of haemoglobinopathies involved. The partner of a known or identified carrier should also be assessed. These procedures often comprise a full blood count where haematological data is assessed (e.g. level of MCV and MCH) and morphology of the red blood cells. Iron studies to check the ferritin level is also included. This is to distinguish iron deficiency that may have been disguising thalassemia. Special haemotological tests are usually done after undergoing full blood count and ferritin examination. These include but not limited to haemoglobin electrophoresis (see Table 1). In case to case basis like pregnant women in the high risk population, it is recommended that haemotological tests be done alongside full blood count and ferritin study. DNA analysis is to be performed for those haemoglobinopathy that cannot be confirmed by special haemotological tests (Ryan et al 2010). It is to be noted that individuals who are carriers often does not show any symptoms of the disease and those with the disorder will show complex multi-organ health problems. It is then important to provide a comprehensive and specialize management of care to patients (Howard and Davies
Bain (2011) defined Haemoglobinopathies as diseases caused by inherited globin synthesis disorders and thus affects the haemoglobin protein of the blood and its function. It can be argued that haemoglobinopathies are the most common gene recessive disorders in the world (Streetly and Dick 2005). In Australia, the increase of cases with haemoglobinopathies disorder is due to immigration of ethnicities that belongs in the risk list (Metcalfe, Barrow-Stewart and Campbell 2007). Risk population includes those with Chinese ethnicity, South East Asian, Black Africans, Mediterranean and other various European communities (Trent 2006).
Haemoglobinopathies are categorized into two groups and can either be caused by the reduced …show more content…
Individuals carrying a pair of the mutated gene or is homozygous may then end up with chronic haemolytic anaemia. It also causes recurrent blockages to the blood vessels that are detrimental to vital organs of the body including the heart, kidney and brains (Metcalfe, Barrow-Stewart and Campbell 2007). Observable symptoms include severe pain, neurological, respiratory and renal problems and acute anaemia (Howard and Davies …show more content…
This is to evaluate if they are carriers of the disease, to know the risk rate and type of haemoglobinopathies involved. The partner of a known or identified carrier should also be assessed. These procedures often comprise a full blood count where haematological data is assessed (e.g. level of MCV and MCH) and morphology of the red blood cells. Iron studies to check the ferritin level is also included. This is to distinguish iron deficiency that may have been disguising thalassemia. Special haemotological tests are usually done after undergoing full blood count and ferritin examination. These include but not limited to haemoglobin electrophoresis (see Table 1). In case to case basis like pregnant women in the high risk population, it is recommended that haemotological tests be done alongside full blood count and ferritin study. DNA analysis is to be performed for those haemoglobinopathy that cannot be confirmed by special haemotological tests (Ryan et al 2010). It is to be noted that individuals who are carriers often does not show any symptoms of the disease and those with the disorder will show complex multi-organ health problems. It is then important to provide a comprehensive and specialize management of care to patients (Howard and Davies