Last Updated on 01/27/2023 by Sophia
Sickle Cell Disorder
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Genetic diseases are disorders that result from an anomaly in somebody's DNA. These
anomalies could be a lone mutation in a single genetic factor or may involve subtraction or
addition of the complete chromosomes. Hereditary disorders include a change in DNA sequence
from the standard arrangement. These genetic conditions include inheritance of a certain mutated
disease triggering gene. This diseases can be passed down from a parent to the child. After a
comprehensive analysis of genetic diseases which are a risk to me in my lifetime, I narrowed
down to sickle cell anemia. This paper addresses reasons why the condition was chosen as a
genetic disorder, mode of inheritance, common signs and symptoms.
Overview of sickle cell illness.
Sickle cell Disorder (SCD) entails a collection of hereditary red blood cell ailments. Patients
with this conditions possess an abnormal hemoglobin by the name hemoglobin S; it’s contained
in the red blood cells. The disease is a life disorder whose severity can differ from one individual
to the other. For a person to have the diseases, then it’s a requirement that he or she must have
inherited two sickle cell genes. Majority of the sickle cell anemia symptoms are directly linked to
abnormally sickled shape red blood cells that block the normal movement of blood. The disease
is serious since it affects hemoglobin which happens to be the oxygen-carrier protein in the red
blood cells. Sickle blood cells are delicate and are usually at the risk of rupturing.
Signs and symptoms.
Patients that are suffering from sickle cell experience symptoms such as Dactylitis which is
inflammation and swelling of both hands and feet. They may also suffer injuries and damages to
the lung, heart and sometimes the eyes. These individuals also experience splenic sequestration
which is a rapid assembly of blood in the spleen. Other symptoms include fatigue, bone infarcts,
and leg ulcers. In infants and young children, they suffer from abdominal pain, fever, and
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pneumococcal bacterial infections. Adolescents develop aseptic necrosis and eye damages. In
adults, the common issues are intermittent pain episodes, injury to the bones, muscles and other
internal organs. The disease was selected as a genetic disease the patient must inherit sickle cell
gene from the parents. The disorder is all about abnormality in genetic makeup that affects the
Mode of Inheritance
It is acquired as an autosomal recessive ailment this means that the gene is not connected to a
gender chromosome. The parent carrying it can, therefore, pass it to any child whether female or
male. For it to happen the sickle cell gene must be inborn from both parents so that the baby will
have two sickle cell genetic factors. Inheriting a single gene is known as the “carrier” state or
sickle cell trait. During conception, a child acquires one collection of genes from the mother and
the other from the father. These genotypes exist inside chromosomes. When an individual
inherits two genes, they develop sickled hemoglobin. For a person to get the sickle cell disease,
then both parents must be having the sickle cell trait. This condition will only occur if parents
who have the trait give birth to a child who acquires genes which are affected, the disease cannot
be spread through blood or contact with an infected person.
One of the major problems in the analysis is the fact that most people are not well informed
about the sickle cell disease, they view it as a religious problem or a curse rather than a genetic
problem. Illiteracy and ignorance is a huge hindrance to acquiring the necessary information.
Most members of the family were reluctant to get tested since that would have a psychological
effect on them. There is also the problem of insufficient or inaccurate medical records in the
family that can be used to track genetic conditions which have occurred in the past. Further
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information that could help in making broad conclusions will include lab reports on the blood
types, information on Rhesus factor and details on chromosomes. Also, information on diseases
that affected family members that are closely related to sickle cell, this disorders could be caused
by environmental factors rather than genetic make-up.
The child born from parents with the sickle cell gene has one in four chances of acquiring the
cell anemia. Therefore I will inform the child that for her to get the disease, she stands a 25
percent probability. Therefore the level of occurrence is low. Also, there is a one in two chances
that an offspring will acquire sickle cell genes whereas there is a one out of two probabilities that
a kid will receive a healthy genetic factor from one parent and a sickle genetic material from the
other therefore at the end the child will experience the sickle cell trait.
KU Library Search.
Terms used for the search include Hemoglobin, causes, and symptoms of sickle cell trait or
anemia. There was a combination of search terms to get comprehensive details. The method of
combining words resulted in the most results due to the number of information related to the
search terms. There was the refining of searches to get specific details about the disease. This
was also meant to classify and analyze details regarding their importance and relevance.
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NIH. (2017). What Is Sickle Cell Disease? – NHLBI, NIH. Retrieved from
Platt, A. F., Eckman, J., & Hsu, L. L. (2016). Hope and destiny: The patient and parent's guide
to sickle cell disease and sickle cell trait.
Silverstein, A., Silverstein, V. B., & Nunn, L. S. (2006). The sickle cell anemia update.
Berkeley Heights, NJ: Enslow Publishers.
Wolters Kluwer Health. (2013). Professional guide to diseases. Philadelphia: Wolters Kluwer
Health/Lippincott Williams & Wilkins.