2015 SICKLE CELL LAB WRITE UP

WEEK 5: GROUPS 3-5 + WJC

Name: Garrett Mcfarlane
Date: November 2, 2015
Course: Molecular Medicine
Group Name and #: MBBS/DDS/BB Med Sci
Title of Lab: Sickle cell lab
Question Number 1
The three most common sickle cell diseases are:
Hemoglobin SS Disease
Hemoglobin SS disease is the most common type and occurs when an individual inherits copies of
the hemoglobin S gene from both parents. Giving the child a SS genotype and forms a type
hemoglobin known as Hb SS.
Hemoglobin SC Disease
Hemoglobin SC disease is the second most common type and occurs when someone inherit the Hb C
gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar
symptoms to individuals with Hb SS but anemia is less severe.
Hemoglobin SB+ (Beta) Thalassemia
Hemoglobin SB+ (Beta) thalassemia affects beta globin gene production. The size of the red blood
cell is reduced because less beta protein is made.

Question Number 2a
i.

Fetal hemoglobin has a higher affinity to oxygen than adult hemoglobin. This is so
fetal hemoglobin can load oxygen at partial pressures of oxygen where adult
hemoglobin unloads. This takes place in the placenta. So as adult hemoglobin
unloads, fetal hemoglobin loads.

ii.

Hemoglobin A (about 95% - 98%)

Hgb F (0.8% to 2%)
Question Number 2b

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood
cells that delivers oxygen to cells throughout the body. People with this disorder have
atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a
sickle, or crescent, shape. As a result of this shape the oxygen carrying capacity of
hemoglobin is decreased.

Question Number 2c
The three factors that influence the rate and extent of polymer formation of the HbS red blood cell
are:

i.

The amount of hemoglobin present in red cells excluding HbS.

ii.

The amount of HbS in red cells influences the tendency of HbS to form polymers.

iii.

The time that red cells are exposed to low concentrations of oxygen.
Question Number 3a

Education rather than medication is the primary form of treating persons and their families with sickle
cell for a number of reasons. Sickle cell anemia is an inherited, lifelong, serious disorder in which the
body produces red blood cells with sickle shape. They are stiff and sticky, and tend to form clumps or
get stuck in the blood vessels. These clumps block blood flow that lead to the limbs and organs,
causing pain, serious infections or organ damage. As this disorder is a chronic one and cannot be
treated with a simple application if medication it is important that the person and family understands
the nature of the disease and possible effects in order to deal with them and allow the affected
individual to live as much as a comfortable life as possible. The individual should also be instructed
on how to deal with the symptoms they are experiencing and be able to identify if they are having a
sickle cell crisis (a sudden pain throughout the body, can often affect the bones, lungs, abdomen, and
joints) so they can seek immediate medical treatment.

Question Number 3b
Three complications that may arise are:
1. Hand-foot syndrome swollen hands and feet caused by sickle-shaped cells blocking
blood flow out of the hands and feet. This may be the first sign in babies with the
condition.
2. Jaundice a yellowing of the skin and eyes occurring due to liver damage.
3. Delayed growth
Question Number 3c
The child most likely had splenic sequestration which may have lead to severe infection or
life threatening anemia.
Question Number 3d
There is no active process to removed iron from the body naturally therefore iron chelation
therapy usually has the be carried out to remove the excess iron from the body, this therapy
uses drugs called iron chelators to remove extra iron from your body or phlebotomy can be
used which is the process of taking blood out of your body. This is usually done every few
weeks. As each unit of blood is removed, some iron is removed as well

Question Number 4a
A is normal non sickled red blood cell the life span is approximately 120 days. B is a sickled
blood cell life with a life span of approximately 20 days.
Question Number 4b
Hemoglobin electrophoresis is the method.
Question Number 4c
Cell A as it has a greater electrical charge.
Question Number 5a
Chorionic villus sampling (CVS) is a prenatal test in which a sample of chorionic villi is
removed from the placenta for testing. The sample can be taken through the cervix
(transcervical) or the abdominal wall.
Amniocentesis (amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis
of chromosomal abnormalities and foetal infections, and also used for sex determination in
which a small amount of amniotic fluid, which contains foetal tissues, is removed from the
sac surrounding the fetus for testing.
Question Number 5b
Amniocentesis is advantageous because it can provide early insight or provide early diagnosis
of certain diseases such as sickle cell, so parents can begin early planning in preparation of
the child or in severe cases choose whether or not to bring the child to full term. It can also
provide insight into the sex of a child so the parents can also prepare for the new born child
buy purchasing clothing and other related items. One disadvantage associated with this
method is the chances of a miscarriage or the chances of the needling hitting the baby.
Chorionic villus sampling can also provide detection of nearly all chromosomal
abnormalities, including Down syndrome, trisomy 13, trisomy 18, and sex chromosome
abnormalities so parents can make decisions concerning their child. However, unlike
amniocentesis, CVS cannot detect neural tube defects, such as spina bifida and there is a
chance of getting an unclear result. This is called a confined placental mosaicism, in which
some of the cell lines cultured from the placenta contain abnormal chromosomes and some
are normal. Miscarriage is also a risk.
Question Number 5c
Hemoglobin Barts is a hemoglobin variant that develops in fetuses that have alpha
thalassemia. It consists of four gamma () chains when there is a shortage of alpha chains.
Hgb Bart's usually disappears shortly after birth due to dwindling gamma chain production.
However in the most severe of cases, it is the only form of haemoglobin in circulation. In this
situation, a fetus will develop hydrops fetalis and normally die before or shortly after birth. If

hemoglobin Barts is detected on a newborn screen as is the case above, the detection of
hemoglobin Barts can indicate either silent alpha thalassemia carrier (one alpha globin gene
deletion), alpha thalassemia trait (two alpha globin gene deletions) or hemoglobin H disease
(three alpha globin gene deletions).
Question Number 6a
The solubility test is the most common screening test for sickle cell or presence
of HbS. It is based on the relative insolubility of HbS when combined with a
reducing agent such as sodium dithionite. When anticoagulated blood is mixed
the reducing agent, the red cells will lyse due to the presence of saponin and the
hemoglobin in the red cells will be released. If HbS is present, it will form liquid
crystals and give a cloudy or turbid appearance to the solution. If HbS is not
present, the solution will appear transparent.

Question Number 6b
1. A patient with an exceptionally high hematocrit may give a false positive
result, while an individual with a very low hemoglobin may also give a
false negative result.
2. Unstable haemoglobins may give a false positive result.
3. False positives can occur with elevated plasma proteins and lipids.

Question Number 7a

2.
3.

GENOTY
PE
MARKER
AS

NORMAL/TRAIT/DISO
RDER
Trait

4.
5.

CC
AA

Disorder
Normal

6.

SS

Disorder

7.
8.

AA
AS

Normal
Trait

9.

SC

Disorder

LANES

SYMPTOMS
No visible symptoms
Usually no symptoms
No symptoms
Pain crisis, Anemia, Jaundice, frequent
infection, stunted growth
No symptoms
No visible symptoms
Pain , less severe Anemia, increased risk
of infection

Question Number 7b
The symptoms of an individual with genotype SC are usually far less than those with the SS
genotype. The individual may experience anemia but of much less severity than those with
the SS genotype. A child with SC disease has an increased risk of getting certain infections,
particularly pneumonia. Children with SC disease may have an enlarged (big) spleen but this
does not happen until they are about 5 years or older.

Question 7(c) The prevalence of this in Jamaica is 10%.

REFERENCES
Martin H Steinberg, MD, Swee Lay Thein, MD ( March 4, 2015).Fetal hemoglobin
(hemoglobin F) in health and disease.
Retrieved (02 Nov. 2015) from http://www.uptodate.com/contents/fetal-hemoglobin-hemoglobin-f-inhealth-and-disease
Yutaka Kohgo, Katsuya Ikuta, Takaaki Ohtake. (July 2, 2008). Body iron metabolism and
pathophysiology of iron overload.
Retrieved (02 Nov. 2015) from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516548/

Sickle Cell Disease. John Hopkins medical library.

Retrieved (02 Nov. 2015) from

http://www.hopkinsmedicine.org/healthlibrary/conditions/hematology_and_blood_
disorders/sickle_cell_disease_85,P00101/
Cheung MC1, Goldberg JD, Kan YW ( November 1996). Prenatal diagnosis of
sickle cell anaemia and thalassaemia by analysis of foetal cells in maternal
blood.
Retrieved (02 Nov. 2015) from http://www.ncbi.nlm.nih.gov/pubmed/8896554