Duhok Polytechnic University

Duhok Technical Institute

Medical Lab. Technology
2nd Stage Evening

Subject:
Beta Thalassemia

Prepared by:
Media Tahsen
Masud Ramazan
Mead teli haj

Supervisor: Dr.Najeeb saeed 2021-2022

 Beta Thalassemia

What Is Beta Thalassemia? Beta thalassemia is

an inherited blood disorder in which the body
doesn't make hemoglobin normally. Hemoglobin
is the part of red blood cells (RBCs) that carries
oxygen throughout the body. The abnormal
hemoglobin can lead to anemia (not enough
RBCs in the body) and other medical
problems.Depending on the type of beta
thalassemia, symptoms can be mild or very
severe. There are treatments that can help with
symptoms
What Are the Different Types of Beta Thalassemia?

The three types of beta Thalassemia are:

•Beta thalassemia minor (also called beta thalassemia trait). People

with beta thalassemia minor may have mild anemia, but usually don't
need any medical treatment.

•Beta thalassemia intermedia. People with beta thalassemia intermedia

have moderately severe anemia and some will need regular blood
transfusions and other medical treatment. The blood transfusions deliver
healthy hemoglobin and RBCs to the body.

•Beta thalassemia major (also called Cooley's anemia). People with

beta thalassemia major have severe symptoms and life-threatening
anemia. They need regular blood transfusions and other medical
treatment.
What Are the Signs & Symptoms of Beta Thalassemia?

People with beta thalassemia trait usually do not

have any symptoms.
Children with beta thalassemia intermedia or major
may not show any symptoms at birth, but usually
develop
them in the first 2 years of life. They may have
symptoms of anemia, such as:
•tiredness
•shortness of breath
•a fast heartbeat
•pale skin
•yellow skin and eyes (jaundice)
•moodiness
•slow growth
People with beta thalassemia major may have other serious health problems,
including:
•bone deformities and broken bones from changes in the bone marrow (where
RBCs are made)
•an enlarged spleen because the organ works harder than normal. Doctors might
need
to remove the spleen if it gets too big.
•infections, especially if doctors removed the spleen (the spleen helps fight some
infections)
What Causes Beta Thalassemia?
Hemoglobin is made of two alpha proteins and two
beta proteins. A gene change (mutation) in the alpha
proteins causes alpha thalassemia. A gene change in
the beta proteins causes beta thalassemia.
In beta thalassemia, the gene change causes an
imbalance of hemoglobin proteins. The imbalance
causes anemia because:
•Red blood cells break down faster than normal.
•Fewer RBCs are made.
•Less hemoglobin is made.
Who Gets Beta Thalassemia?

People inherit the genes for beta thalassemia from their

parents. A child gets one beta protein gene from the
mother and one from the father:
•Someone who inherits the gene change in the beta
protein from one parent has beta thalassemia minor
(beta thalassemia trait).
•Someone who inherits a gene change in both beta
proteins (one from each parent) has beta thalassemia
intermedia or beta thalassemia major (Cooley's
anemia).
How Is Beta Thalassemia Diagnosed?

If a woman is pregnant and both parents have beta thalassemia trait,

doctors can check the fetus by:
•Chorionic villus sampling (CVS): Done about 11 weeks into
pregnancy,
this involves removing a tiny piece of the placenta for testing.
•Amniocentesis: Usually done about 16 weeks into the pregnancy, this
involves removing a sample of the fluid that surrounds the fetus to check
for signs of problems.
Young children: may be diagnosed with a blood test if they develop
anemia, have a swollen belly (from an enlarged spleen), or have
poor growth. The blood tests include one or both of these:

•hemoglobin electrophoresis

•test for abnormal hemoglobin genes

How Is Beta Thalassemia Treated?

Treatment depends on what kind of beta thalassemia

someone has.
Kids with beta thalassemia trait usually don't need
treatment.
Children and adults with beta thalassemia major
need lifelong medical care that includes:
•regular blood transfusions about every 2-4 weeks
•medicines to remove extra iron from their bodies
(called
chelation)
People with beta thalassemia intermedia may need blood
transfusions and chelation (key-LAY-shun) but not as often
as people with beta thalassemia major.

Blood transfusions and chelation do not cure beta

thalassemia. A stem cell transplant can cure it, but it is
a serious procedure with many risks and won't benefit
everyone with the condition. Doctors and scientist are
working on developing gene therapies and other
treatments to help people with beta thalassemia.
PreventionIn most cases, you can't prevent thalassemia. If you have
thalassemia, or if you carry a thalassemia gene, consider talking
with a genetic counselor for guidance if you want to have
children.There is a form of assisted reproductive technology
diagnosis, which screens an embryo in its early stages for genetic
mutations combined with in vitro fertilization. This might help
parents who have thalassemia or who are carriers of a defective
hemoglobin gene have healthy babies.The procedure involves
retrieving mature eggs and fertilizing them with sperm in a dish in a
laboratory. The embryos are tested for the defective genes, and only
those without genetic defects are implanted into the uterus.By Mayo
Clinic Staff
Tests used in the diagnosis of thalassemia Blood
tests:
• Complete Blood Count (CBC).
• hemoglobin electrophoresis.