Fanconi Anemia-Symptoms, Treatment

 

Fanconi Anemia is a disease that is genetic in nature, it is a disorder that affects the bone marrow. It results in reduced production of blood cells.

Fanconi Anemia Causes

Fanconi Anemia is mainly due to a defective gene that destroys the cells and even keeps them from repairing the DNA that is damaged. A person gets this disease if he or she gets one copy of this abnormal gene from both parents. It has been diagnosed in children between the ages 2 and 15.

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Fanconi Anemia Symptoms

Here are the symptoms of Fanconi Anemia

1. Low blood cells of all types The person has lower than average white blood cells, red blood cells and platelets. Since the patient has not enough white blood cells, he or she is not able to fight infections. Since there is very less red blood cells, the patient is prone to anemia Since the amount of platelets are also low, it leads to unstoppable bleeding.

2. Change in the color of the skin; there can be Café au lait spots as well as vitiligo

3. There are sensory problems like deafness due to ears being abnormal or defective vision due to eye problems

4. Scoliosis, curved spine caused due to misalignment of bones specially at the ribs, hips and spine

5. Kidneys that are not formed properly.

6. Parts of fingers and hands missing; there can be a thumb missing, the lower arm may not work properly, a bone may be missing in the forearm.

7. The person may have short height or small head.

8. Low weight during birth

9. Learning Disability

10. Mental Retardation

Fanconi Anemia Diagnosis and Tests

Fanconi Anemia’s diagnosis and tests include

1. Bone marrow biopsy

2. Complete Blood Count Test

3. Kidneys Ultrasound

4. Medicines may be added to blood sample to check the extent of damage to the chromosomes

5. Hand X-ray and other imaging studies

6. Hearing test

7. Matching bone marrow donors test through a process called HLA Tissue Typing

8. Developmental tests.

9. Chorionic villous sampling or amniocentesis in case of pregnant women to diagnose health of the fetus

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Fanconi Anemia  Treatment

1. Blood counts can be improved temporarily with drugs that are termed as growth factors which include G-CSF, GM-CSF and erythropoietin. Patients who have manageable blood cell changes may not need transfusion; they have to be regularly checked for blood count. The health care provider will also perform tests for cancers of the urinary system, neck, head and leukemia.

2. Bone marrow transplant: A bone marrow transplant is given to cure blood count issues associate with Fanconi Anemia. The best donor can be a sibling whose tissue type is equivalent to that of the patient. If the patient does not have a bone marrow donor, hormone therapy is advisable with low dose of steroids like prednisone and hydrocortisone. It has been seen that patients do respond positively to hormone therapy. However if the drugs are stopped, the situation can be worse. Also after bone marrow transplants, the person may still need to go for checkups to prevent additional cancers.

3. There may be more treatments needed in the form of antibiotics given intravenously to treat infections.

4. Fanconi Anemia is a condition that warrants the patient to go to various specialists like a blood disorder specialist or hematologist, an endocrinologist who treats gland related disorders, a bone doctor or orthopedist, an eye doctor, a kidney disease specialist or nephrologist and a gynecologist if the patient is a woman.

 

Fanconi Anemia Survival Rate

The survival rate of Fanconi Anemia can vary from person to person. The prognosis is poor specially in case of people who have low blood counts. However ,modern science in the form of new and innovative treatments like bnoe marrow transplants have increased chances of survival

 

Fanconi Anemia has risk factors in the form of diseases like blood disorders, leukemia and other types of cancers (mainly of the head, neck or urinary system) and myelodysplastic syndrome, Women who are diagnosed with Fanconi Anemia and have become pregnant, may need transfusions during pregnancy. Men are known to have low fertility.

 

Fanconi Anemia Prevention

People who already have this condition can go for counseling so that they know about the issues they may have, in case they decide to marry and have children. Vaccinations can limit complications like hepatitis and pneumococcal pneumonia. Also people should avoid taking carcinogenic or cancer causing substances and go for cancer checkups.

 

 

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