Genetic Disorders

John Benedict B. Merlin

11 - Polaris
 1. Thalassemia

Thalassemia is an inherited blood disorder in which the body makes an abnormal

form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries
oxygen.

The disorder results in excessive destruction of red blood cells, which leads
to anemia. Anemia is a condition in which your body doesn’t have enough normal,
healthy red blood cells. Thalassemia is inherited, meaning that at least one of your
parents must be a carrier of the disease. It’s caused by either a genetic mutation or a
deletion of certain key gene fragments. Thalassemia minor is a less serious form of the
disorder.

There are two main forms of thalassemia that are more serious. In alpha
thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In
beta thalassemia, the beta globin genes are affected.

Symptoms of thalassemia

The symptoms of thalassemia can vary. Some of the most common ones include:

1. bone deformities, especially in the face 4. yellow or pale skin

2. dark urine 5. excessive tiredness and fatigue

3. delayed growth and development

Treatment options for thalassemia

The treatment for thalassemia depends on the type and severity of disease involved.
Your doctor will give you a course of treatment that will work best for your particular
case.
Some of the treatments include:

 blood transfusions

 bone marrow transplant

 medications and supplements

 possible surgery to remove the spleen or gallbladder

Different Types of Thalassemia

Beta thalassemia

Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one
from each parent, are inherited to make beta globin. This type of thalassemia comes in
two serious subtypes: thalassemia major (Cooley’s anemia) and thalassemia
intermedia.

Thalassemia major is the most severe form of beta thalassemia. It develops when beta
globin genes are missing. The symptoms of thalassemia major generally appear before
a child’s second birthday. The severe anemia related to this condition can be life-
threatening.

Thalassemia intermedia is a less severe form. It develops because of alterations in

both beta globin genes. People with thalassemia intermedia don’t need blood
transfusions.

Alpha thalassemia

Alpha thalassemia occurs when the body can’t make alpha globin. In order to make
alpha globin, you need to have four genes, two from each parent.
This type of thalassemia also has two serious types: hemoglobin H disease and
hydrops fetalis.

Hemoglobin H develops as when a person is missing three alpha globin genes or

experiences changes in these genes. This disease can lead to bone issues. The
cheeks, forehead, and jaw may all overgrow.

Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth.
Most individuals with this condition are either stillborn or die shortly after being born.
This condition develops when all four alpha globin genes are altered or missing.

Thalassemia minor

People with thalassemia minor don’t usually have any symptoms. If they do, it’s
likely to be minor anemia. The condition is classified as either alpha or beta thalassemia
minor. In alpha minor cases, two genes are missing. In beta minor, one gene is missing.

The lack of visible symptoms can make thalassemia minor difficult to detect. It’s
important to get tested if one of your parents or a relative has some form of the disease.
 2. Tuberous sclerosis

Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis

complex, is an uncommon genetic disorder that causes noncancerous (benign) tumors
— unexpected overgrowths of normal tissue — to develop in many parts of the body.
Signs and symptoms vary widely, depending on where the growths develop and how
severely a person is affected.

Tuberous sclerosis is often detected during infancy or childhood. Some people

with tuberous sclerosis have such mild signs and symptoms that the condition isn't
diagnosed until adulthood, or it goes undiagnosed. Others experience serious
disabilities.

Although there is no cure for tuberous sclerosis, and the course or severity of the
disorder can't be predicted, treatments are available to manage symptoms.

Symptoms

Tuberous sclerosis symptoms are caused by noncancerous growths (benign

tumors), in parts of the body, most commonly in the brain, eyes, kidneys, heart, lungs
and skin, although any part of the body can be affected. Symptoms can range from mild
to severe, depending on the size or location of the overgrowth.

The symptoms of tuberous sclerosis vary. Some of the most common ones include:

1. Skin abnormalities 6. Kidney problems.

2. Heart issues 7. Behavioral problems.
3. Lung problems 8. Cognitive disabilities.
4. Eye abnormalities 9. Seizures.
How is Tuberous sclerosis treated?

There is no cure for Tuber Sclerosis, although treatment is available for a number
of the symptoms. Antiepileptic drugs may be used to control seizures. Vigabatrin is a
particularly useful medication in TSC and has been approved by the U.S. Food and
Drug Administration (FDA) for treatment of infantile spams in TSC, although it has
significant side effects. The FDA has approved the drug everolimus (Afinitor®) to treat
subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma
kidney tumors.
Specific medications may be prescribed for behavior problems. Intervention
programs including special schooling and occupational therapy may benefit individuals
with special needs and developmental issues. Surgery may be needed in case of
complications connected to tubers, SEN or SEGA, as well as in risk of hemorrhage from
kidney tumors. Respiratory insufficiency due to LAM can be treated with supplemental
oxygen therapy or lung transplantation if severe.
Because TSC is a lifelong condition, individuals need to be regularly monitored
by a doctor to make sure they are receiving the best possible treatments. Due to the
many varied symptoms of TSC, care by a clinician experienced with the disorder is
recommended.

3. Hemophilia

Hemophilia is a rare disorder in which your blood doesn't clot normally because it
lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may
bleed for a longer time after an injury than you would if your blood clotted normally.

Small cuts usually aren't much of a problem. The greater health concern is deep
bleeding inside your body, especially in your knees, ankles and elbows. That internal
bleeding can damage your organs and tissues and may be life-threatening.

Hemophilia is an inherited (genetic) disorder. Treatment includes regular

replacement of the specific clotting factor that is reduced.

Symptoms

Signs and symptoms of hemophilia vary, depending on your level of clotting

factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or
trauma. If your deficiency is severe, you may experience spontaneous bleeding.
Signs and symptoms of spontaneous bleeding include:

 Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental
work

 Many large or deep bruises

 Unusual bleeding after vaccinations

 Pain, swelling or tightness in your joints

 Blood in your urine or stool

 Nosebleeds without a known cause

 In infants, unexplained irritability

Causes

When you bleed, your body normally pools blood cells together to form a clot to stop
the bleeding. The clotting process is encouraged by certain blood particles. Hemophilia
occurs when you have a deficiency in one of these clotting factors.

There are several types of hemophilia, and most forms are inherited. However, about
30 percent of people with hemophilia have no family history of the disorder. In these
people, an unexpected change (spontaneous mutation) occurs in one of the genes
associated with hemophilia.

Acquired hemophilia is a rare variety of the condition that occurs when a person's
immune system attacks clotting factors in the blood. It can be associated with:

 Pregnancy

 Autoimmune conditions

 Cancer

 Multiple sclerosis