Sickle Cell Anaemia: Clinical Features, Diagnosis and Management

Sickle cell anaemia is a haemoglobin disorder that affects millions worldwide. It covers a broad range of diseases and has devastating effects. This paper examines the overview of clinical features of sickle-cell anaemia, diagnostic strategy and the treatment/ management of the disease.

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SICKLE CELL ANAEMIA
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Sickle Cell Anaemia
Introduction
Sickle cell anaemia is haemoglobin disorder that widespread around the world with
devastating effects. The haemoglobinbinopathies, specifically thalassaemias and disorder are
internationally common. Approximately 5 per cent of the global populace carries genes liable for
haemoglobinopathies. Annually, around 300,000 babies around the world are born with serious
haemoglobin disorders that comprise over 200,000 cases of the disorder in Africa only (Simon,
Long & Koyfman, 2016, pp. 370). Worldwide, there are extra carriers (that is, healthy
individuals who have inherited only single mutant gene from one parent) of thalassaemia that
sickle cell anaemia; however, the high incidence of the sickle cell gene in some regions to a high
rate of affected newborns. Thus, the disorder has become more widespread in Africa due to the
sickle cell trait presents some resistance to falciparum malaria in a critical age of early
childhood, which favour the endurance of the host along with succeeding spread of the abnormal
haemoglobin gene. In addition, sickle cell anaemia covers a broad spectrum of diseases (Rees,
Williams, & Gladwin, 2010, pp. 2018). The majority of the affected individuals have persistent
anaemia with haemoglobin absorption of about 8g/dl. Hence, the primary challenges emanate
from the propensity of the red blood cells (RBCs) to assume a sickle shape, as well as block
capillaries at low oxygen tension.
In kids, sickle-shaped RBCs often become ensnared in the spleen that lead to a grave
danger of death prior to the age of 7 years from an abrupt deep anaemia linked to quick spleen
swelling or due to absence of splenic job allows an overpowering infection. Hence, between six

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and eighteen months of age of affected most often present with aching inflammation of hands
and/or feet. The survivors can too suffer recurring, as well as erratic sever painful crises, plus
acute chest syndrome (pneumonia or pulmonary infraction), bone or joint necrosis, priapism or
renal failure (Nolan, Zhang & Lash, 2008, pp. 433). For the majority of the patients, the
occurrence of complications may be lowered by plain protective strategies, like prophylactic use
of penicillin in childhood, evading extreme heat, or cold along with dehydration. The paper will
examine the overview of clinical feature of sickle-cell anaemia, diagnostic strategy and the
treatment/ management of the disease.
Overview of Clinical Features
The disease covers a broad range of disease. The public health impacts of sickle-cell
anaemia are noteworthy. The implications on human health can be evaluated against the
benchmarks of baby along with under-five death. A growing percentage of affected kids
currently stay alive past 5 years; however, remain at risk of early demise. When wellbeing
implications is assessed under-five mortality, the disease contributes around 5 per cent of under-
five mortalities on the African continent, over 9 per cent of these deaths in West Africa, and up
to 16 per cent of under-five deaths in individuals west African nations. The mainstream of the
individuals affected have chronic tendency of the RBCs to become sickle-shaped, as well as
block capillaries at low oxygen tension (Yallop, Duncan & Norris, 2007, pp. 844). In addition, in
kids, sickle-shaped RBCs frequently become ensnared in the spleen that results in a grave risk of
death before the age of 7 years from an abrupt deep anaemia linked to speedy splenic swelling or
due to the absence of splenic functions allow an overpowering infection. Between 6 and 18
months of age children with the disease most often present with excruciating enlargement of the

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hands and/or feet. The survivors can too suffer recurring along with erratic serious painful crises,
and “acute chest syndrome”, bone or joint necrosis, priapism or renal failure (Alexander, Higgs,
Dover & Serjeant, 2004, pp. 606).
Additionally, for the mainstream of the patients, the occurrence of complications may be
lowered by simple defensive strategies like prophylactic use of penicillin in childhood, evading
extreme heat and cold along with dehydration plus contact a specialist centre as soon as possible.
These protections are most efficient if vulnerable babies are recognized at birth. Also, some
patients with sickle-cell anaemia have such grave problems, which they require customary blood
transfusion along with iron-chelation therapy. These circumstances together with the varying
signs of the disease in Africa create an urgent need to build up models of care suitable for the
management of sickle-cell anaemia (Naymagon, Pendurti & Billett, 2015, pp. 375).
Moreover, infants plus children with the disorder are particularly vulnerable to bacterial
contagions, like those that result in meningitis, as well as blood infections. These contagions are
a primary cause of deaths among the infants with the disorder. They may be prevented by
immunization along with prophylactic penicillin. Stroke has also been reported as a clinical
feature of sickle cell anaemia. An approximated 10 per cent of kids with the disorder develop
signs of stroke that occurs when a blood capillaries in the brain becomes blocked-up whilst
another 20 per cent are found to have clinically silent strokes through the use of MRI imaging of
their brains. Stroke might lead to permanent disability of learning challenges among the affected
children. Nonetheless, physicians currently may identify most kids who are at a risk of increased
symptomatic stroke with a special ultrasound test (Habibi, Mekontso-Dessap & Guillaud, 2016,
pp. 989).

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There is also delayed growth in children with the disorder. The RBCs in the body supply
oxygen along with the nutrients, which are needed for growth. This implies that a shortage of red
blood cells slow growth in infants and children and delay puberty among the teenagers. Vision
problems have been also identified as one of clinical features of sickle cell anaemia. Minute
blood vessels in the eyes might become capped with sickle cells. Thus, this may harm the retina-
the fraction of the eye that produces visual images resulting in vision problems of the affected
individual (Dampier, Setty & Eggleston, 2004, pp. 785).
Diagnostic Strategy
Screening for sickle cell anaemia is performed with a simple blood test, which detects the
existence of the abnormal haemoglobin protein. In several states, including the Great Britain and
the United States, the blood tests are part of a routine newborn screening. Adults may too get the
blood test if they are concerned they may have sickle cell trait. The newborns are often screened
for sickle cell anaemia soon after birth. It has been established that early diagnosis is key to
providing the best treatment and prevent further complications (Anand, Willson & Berger, 2015,
pp. e1208). This is attributed to the fact that sickle cell anaemia may lead to serious infections
within weeks of birth. Blood test has been found to be the appropriate diagnostic strategy for
sickle cell anaemia. Testing and screening makes sure that infants with the disease receive
appropriate treatment to protect their health. Blood tests may be performed at any time to check
the condition and ascertain individuals at danger of having a kid with sickle cell anaemia. Sickle
cell test usually looks for the presence of haemoglobin S, which is responsible for sickle cell
anaemia. A negative test is normal that indicates that the haemoglobin is normal while a positive

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test can imply that the individuals have sickle cell trait or sickle cell disease (Treadwell, Telfair
& Gibson, 2011, pp. 116).
Screening throughout pregnancy is performed to check if the baby is at danger of being
born with the condition. Early screening during pregnancy is provided to all the pregnant females
in the United Kingdom. In some regions of England in which conditions of sickle cell anaemia
are more widespread, pregnant females are provided with a blood test to confirm if they have
sickle cell anaemia. In regions where the sickle cell anaemia of less widespread, a questionnaire
regarding the origins of the family is utilized to ascertain whether the mother must have a blood
test for the disease. Usually, the screening process is ideally performed before the mother is ten
weeks pregnant that will allow consideration of additional blood tests to establish if the baby
would be born with the disorder (Jones, Duncan & Thomas, 2005, pp. 530).
Patients who test positive following the screening for abnormal haemoglobin do not
necessarily have the disease and can only have sickle cell trait. As a result, additional testing is
required to make a definite diagnosis. A blood test can too be repeated to eliminate a false of
positive outcome after the test. Patients diagnosed with the disease should frequent laboratory
tests comprising urine and blood tests to monitor them for complications such as infections or
kidney problems. Patients can too get a transcranial Doppler ultrasound screening (TCD), which
is a painless process that utilizes sound waves to investigate flow of blood in the brain. This
allows the doctors to evaluate the risk of stroke, as well as begin treatments to lower the danger
if essential. Nonetheless, getting a sickle cell test within 90 days following a blood transfusion
can result in inaccurate results. The process of transfusion may lower the level of haemoglobin s-

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protein that causes sickle cell anaemia-in the blood systems (Smith, Penberthy & Bovbjerg,
2008, pp. 94).
Management/Treatment
In many nations in which the disease is a main public issue, its management has become
ineffective, national programs do not survive, the essential facilities to management patients with
sickle cell anaemia are normally lacking. In addition, systemic screening is not a widespread
exercise plus diagnosis is normally undertaken when a patient exhibits with serious
complication. The undemanding in addition to cost-effective processes like the utilization of
penicillin to stop possible infections are not extensively accessible in many nations. Therefore,
the primary confront is to advance the future for the clients with the condition. The primary
element of all-inclusive care for the patients with the disease is early intervention for avoidable
challenges with pain drug, antibiotics, folic acid supplements, as well as high drinking of fluids
(Fitzhugh, Lauder & Jonassaint, 2010, pp. 36).
In the last three decades, development has been attained in many respects: long-standing
treatment with hydroxyurea has lowered the frequency of painful crises and enhanced the quality
of life of patients with the disease; imaging researches may help in the timely management of
serious complications like stroke plus the chest disorder; bone marrow transplantation, though
not free of danger and not accessible for all patients may heal the disease; frequent blood
transfusion programs linked to iron chelation may stop complications; gene therapy has been
performed productively in animal models; however, not tested in clinical trials in human
subjects. Treatment with hydroxyurea has been found effective strategy because it reduces

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several of the complications associated with the disease (Treadwell, Johnson, & Sisler, 2016, pp.
381).
There is proof that neonatal screening for the disorder, when associated with opportune
testing, parental education and all-inclusive care, noticeably lowers morbidity, as well as
mortality from sickle cell anaemia in infancy along with early childhood. Hence, even efficient
care comprising expert counselling as well as access to required care, regardless of patients’
capability to pay, may considerably lower the condition and enhance the quality of lives of
individuals living with the disease (Ahn, Li. & Wang, 2005, pp. 184).
The disease may be stopped in couples at danger of having kids with the disease through
low-cost and dependable blood tests; chronic villus sampling from 9 weeks of pregnancy may be
carried for prenatal diagnosis. These measures are in line with the health education. Nonetheless,
prenatal diagnosis may result in ethical concerns that vary from one culture to another. In
addition, experience has apparently shown that genetic counselling with the proffer of prenatal
diagnosis may result in a large-scale decrease in births of affected kids (Hargrave, Wade &
Evans, 2003, pp. 846).
Conclusions
Because sickle cell anaemia is a major public in many nations, there is the need for a
comprehensive management and prevention strategy. Currently, many parts of Africa have not
received the needed attention towards the management and prevention of the disease. Like many
other chronic diseases, enhanced management is likely to fashion an increasing demand for more
services to lower incidences of sickle cell anaemia. Systematic collection of information on the

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cost-effective strategies of treatment and management of the disease must be promoted at the
community level (Gupta, Yui & Xu, 2015, pp. 872). Education coupled with surveillance should
be provided at the community level via primary healthcare systems that will boot public
consciousness of the diseased and elongate the survival of the affected persons. Finally, it should
be the role of the government tom develops diagnosis techniques at birth as component of the
screening process that will in the management and treatment of the condition.

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