The aim of this presentation to describe how to control sickle cell anemia using genetic counseling .

1. Control of sickle cell anemia
AQEEL BIN NASR
Advisor: Anders Ruter
Examiner: Unn-Britt Johansson
Sophiahemmet university college

2. BACKGROUND
• Basics to sickle cell anemia
-Hemoglobin Function.
-The variant HbS clusters.
-This clustering distorts RBCs into sickle shapes.
-These rigid reshaped RBCs get trapped in blood
vessels.

3. • History
-In 1904, Walter Clement Noel traveled to study
dentistry.
-He was hospitalized after developing severe
respiratory distress and a leg ulcer.
- Dr Irons, performed a routine blood test and a
urine analysis.
- In 1910 Herrick, the supervisor of Dr Irons,
published an article.
- This was the first documented case.

4. • Epidemiology
-Sickle cell anemia has a birth prevalence of about
300,000 children annually.
- According to recent reports, between 50-80% of
children affected.
- Malaria is considered to be the main reason of this
shocking death rate (Makani, Komba, Cox et al.,
2010 ).
-In Saudi-Arabia, 2-27% of the population are
thought to have SCA trait and a further 3% percent
sickle cell anemia (El-Hazmi, Al-Hazmi & Warsy,
2011).

5. • Pathology
-Hemoglobin transports oxygen.
- Whether oxygen is bound or not, hemoglobin molecules are
present as isolated entities inside RBCs. The scenario alters
completely in the presence of Hbs hemoglobin.
-The normal elastic nature of RBCs allows them to alter in
shape while passing through small blood vessels. Because
sickled cells are not elastic and therefore cannot alter their
shape, blood vessel occlusion and ischemia occurs.
- New RBCs are continuously manufactured in the bone
marrow but in sickle cell anemia the rate of destruction exceeds
the rate of formation.
- Also the life span of sickled cells is short(Malowany &
Butany, 2012).

6. • Signs and symptoms
-The cause of sickle cell anemia, does not necessarily
lead to such newborn infants exhibiting symptoms of
the disease.
- The symptoms usually appear later.
- Most anemic individuals feel tired or weak. Since
there are not enough RBCs in the circulationto do
activity.
- Other symptoms of sickle cell anemia include
dizziness, headache, difficulty in breathing, cold feet
and hands, pale skin and jaundice (Kohne, 2011).

7. • Sickle cell disease crisis
-Sickle cell disease results in anemia and crises that take
many forms, which usually last for between five and seven
days. The most common types of crises are reviewed next:
* Sickle vaso-occlusive crisis.
* Splenic sequestration crisis.
* Hemolytic crisis.
-Hemolysis, i.e. accelerated destruction of RBCs, is a
major cause of sickle cell anemia symptoms. Blood
transfusion therapy and bone marrow transplantation is
usually recommended to manage a hemolytic crisis
(Hebbel, Vercellotti & Nath, 2009).

8. • Complications
-Since sickle cell anemia is characterized by
destruction of RBCs, the supply of oxygen to various
parts of the body is severely compromised which
leads to various complications (Musumadi,
Westerdale& Appleby, 2012).
- Pneumonia with infants and children. Moreover,
children should be given a dose of a broad spectrum
antibiotic (penicillin) on a daily basis to minimize
infections (Sheng, Chertow, Morens & Taubenberger,
2010).
-Depression and anxiety account for more pain and a
poorer life quality in older patients (Levenson,
McClish, Dahman et al., 2008).

9. • Diagnosis
-Sickle cell anemia is easily diagnosed by
determining, with the aid of a microscope, whether
sickle shaped RBCs are present in a blood smear. It is
a cheaper but less sensitive diagnostic technique
compared to gel electrophoresis.
-A solubility test is also performed to detect the
presence of variant HbS (Aluoch, 1995).

10. • Genetics of the disease
-Hemoglobinopathies are by far the most
common genetic disorders in the world
population.
- In recent years the incidence of sickle cell
anemia has increased dramatically in Europe. It
is said that, in European countries, the incidence
of sickle anemia is now greater than genetic
conditions such as hemophilia and cystic fibrosis
Roberts & de Montalembert (2007).

11. • Inheritance
-Humans have 22 chromosome pairs identical in
both the male and female; the 23rd pair is different
and determines the sex of an individual. One
chromosome of each pair is inherited from the
mother and the other from the father.
- A person is said to be a carrier of sickle cell disease
if he or she has only one sickle cell gene.
- A person is said to have sickle cell anemia if both
of the genes coding for the beta chain of the globin
molecule are mutant and code abnormal protein
(Creary, Williamson & Kulkarni, 2007).

12. • Prevention of sickle cell anemia
-One of the main approaches to halt this disease
would be to offered a blood test to screen
parents.
-It is noteworthy that all babies born in the UK
are tested for sickle cell anemia as part of the
heel-prick newborn screening test performed by
the midwife.

13. • Control of sickle cell anemia
One sure way of preventing this disease is by the
screening of the blood of prospective partners
before marriage (Serjeant, 2010). This will help in
reducing the incidence of sickle cell anemia and
will also prove beneficial in making the carriers
realize the significance of their condition.

14. • Problemarea
As Serjeant and Serjeant (1992) explains, sickle
cell disease is a major problem affecting all
countries in the world. International agencies like
World Health Organization (WHO), United
Nations Educational, Scientific and Cultural
Organization (UNESCO) have expressed their
concerns about the disease terming it as major
threat to public health.

15. AIMS
The aim of this study was to explore the scientic basis
for ways of controlling sickle cell anemia.
Research Question
- How does awareness creation help in controlling
sickle cell disease?
- What evidence is there for premarital screening as a
succesful way of controlling sickle cell disease?
- What education regarding status of their disease be
provided to carriers of sickle cell disease?

16. METHODS
-Literature review on the nature of sickle cell anemia and
its control was used in conducting this study.
-There are several; reasons why literature review was
chosen as the most appropriate methodology for the
study.
- Literature review will allow the researcher to generalize
the findings to the study population. It will also help the
researcher to take control of variation between the studies
identified for the study. The use of literature review will
help in detecting any possible bias during the publication.
-This method incorporates many studies that were
conducted on the same topic and this minimizes the
influences by any local bias.

17. -The PubMed database was the main database that
was used for the study. This database maintained
by the US National Library of Medicine (NLM).
It was chosen because gives free access to
MEDLINE, the NLM database of indexed
citations and abstracts. It therefore provides
access to other relevant web sites and additional
links to other NCBI molecular biology resources
(PubMed and MEDLINE, 2012).

18. -The main inclusion criteria used in searches was all
articles on sickle cell anemia, and also
hemoglobinopathies that were published between 1910
and 2012. The literature review in this thesis therefore
covers more than one century of research, namely the
years 1910-2012.
- Secondly the articles included in this study were mainly
those published in English unless they were in other
languages that could easily be translated into English.
- The articles included in the study were only those that
included the most important original scientific
contributions in the literature that discuss current thinking
in the field of sickle cell anemia,...etc .
-Any other article that did not meet these qualifications
was excluded from the study.

19. ETHICAL CONSIDERATION
-First, the study included proper citations and referencing for
all articles that were used. This is important in
acknowledging the works that other people have done
concerning sickle cell anemia.
- Secondly, only the truth as revealed in the research articles
was include. The research outcomes were not modified.
- Thirdly, there was no biasness in selecting the articles to be
used in the study in order to influence the study results to
favor any individual or organization. Those articles that have
no substantial evidence were excluded in order to avoid
rumors and hearsays about the disease.
- The study did not consider regional, religious, race, sex, or
any other similar characteristics of the authors in identifying
the articles to be included in the study.

20. REFERENCES
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