THALASSEMIA
THALASSEMIA
THALASSEMIA
B A D H A I , B I J AY
CHALISE, SAGAR
CARIÑO, ZERWIN DEAN
CUISON, MIRZI DOROTHY
HEMOGLOBIN
• Quaternary structure consists of 141 amino
acids in the alpha chain and 146 amino acids
in the beta chain.
• The two identical α chains and the two
identical β chains are arranged tetrahedrally.
• Heme is a prosthetic group.
• Fe(II) ion is at the center of the heme for
oxygen binding. Each subunit of hemoglobin
has a histidine residue that forms a covalent
bond to the heme.
• The two identical alpha chains and two
identical beta chains are arranged
tetrahedrally. These units are held together
by hydrophobic interactions, hydrogen
bonding, and salt bridges.
THALASSEMIA
• Came from the Greek word “Thalassa” which means “sea” and “Hema“
which means “blood”.
• Thalassemia is an inherited blood disorder that causes patients body to
have less hemoglobin than normal thus, can cause anemia, leaving
patients fatigued.
• If patients have mild thalassemia, they might not need treatment
however, more severe forms might require regular blood transfusions.
THALASSEMIA
X-linked alpha thalassemia.
EPIDEMIOLOGY
Alpha-Thalassemia- prevalent in Asian and African population.
Beta-Thalassemia- prevalent in Mediterranean population. (Example:
Greece and Turkey)
There is no effective screening method in place.
PATHOPHYSIOLOGY and ETIOLOGY
Hemoglobin
-Protein molecule in the red blood cells that carries oxygen.
In Thalassemia there is an excessive destruction of red blood cells, which results
in Anemia.
Common cause of Microcytic Anemia.
Caused by deletions or mutations of Hb genes, results in underproduction or
absence of alpha or beta chains
It is an Autosomal Recessive Disease
PATHOPHYSIOLOGY and
ETIOLOGY
PATHOPHYSIOLOGY and ETIOLOGY
Thalassemia Minor
Only one parent is a carrier.
Develops minor symptoms.
Thalassemia Major
Both parents are carriers.
Develops major symptoms.
PATHOPHYSIOLOGY and ETIOLOGY
Alpha globin protein chains consist of four genes, two from each parent.
Beta globin protein chains consist of two genes, one from each parent.
Decreased synthesis of Alpha or Beta chains of Hemoglobin.
Results in Red Blood Cell Deformity that will result in decrease level of oxygen.
In Alpha Thalassemia it depends on the number of gene mutations that is inherited
from the parents.
In Beta Thalassemia it depends on which part of the hemoglobin molecule is
affected.
There are 200 identified mutations as the culprit of thalassemia
ALPHA THALASSEMIA
ABNORMALITY: Hemoglobin does not produce enough alpha protein
characterized by a reduced production of the α-globin chains of the hemoglobin
molecule, while the β-globin chains are normally produced. This means that there
will be an accumulation of the β-(unpaired) globin chains, within the developing red
cell.
Four genes are involved in making the alpha hemoglobin chain. 2 from each parent
• One mutated gene: No Signs and Symptoms. But is a carrier of the disease
• 2 mutated genes: Mild symptoms. Might be called alpha-thalassemia trait.
• 3 mutated genes : Signs and symptoms are Moderate to Severe
TYPES OF ALPHA THALASSEMIA
Iron chelation
• It involves the removal of excess iron from patient's body.
Folic acid supplements
• This can help patients body make healthy blood cells.
TREATMENT
Bone marrow and stem cell transplant
• It is received from a compatible related donor is the only treatment to cure
thalassemia. Compatibility means the donor has the same types of proteins,
called human leukocyte antigens (HLA), on the surface of their cells as the
person receiving the transplant.
Luspatercept
• It is an injection that’s given every three weeks which can help patient body
make more red blood cells.
Heart disease from iron overload is the leading cause of death in people with
thalassemia, so keeping up with iron chelation therapy is extremely important.
References
Bajwa H, Basit H. Thalassemia. [Updated 2022 Jun 7]. In: StatPearls [Internet]. Treasure Island
(FL): StatPearls Publishing; 2022 Jan-. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK545151/
https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995
https://medlineplus.gov/ency/article/000587.htm
https://my.clevelandclinic.org/health/diseases/14508-thalassemias?
fbclid=IwAR0rkwm0iuDdN_c3Lyr2Au9zK-9k1KTNslP2Dus7x1F-uQ6sLB2OCFQa-QU
https://www.thalassemia.org/learn-about-thalassemia/about-thalassemia/
https://thalassemia.com/alpha-thalassemia.aspx#gsc.tab=0
https://thalassaemia.org.cy/education/learn-about-thalassaemia/haemoglobin-disorders/
alpha-thalassaemia/
Thank you for your attention