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Fanconi anemia
Is a disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells.
Symptoms:
- Abnormal heart, lungs, and digestive tract
- Bone problems (especially the hips, spine or ribs, can cause a curved spine (scoliosis)
- Changes in the color of the skin, such as darkened areas of the skin, called café au lait spots, and vitiligo
- Deafness due to abnormal ears
- Eye or eyelid problems
- Kidney(s) that did not form correctly
- Problems with the arms and hands, such as missing, extra or misshapen thumbs, problems of the hands and the bone in the lower arm, and small or missing bone in the forearm
- Short height
- Small head
- Small testicles and genital changes
- Failure to thrive
- Learning disability
- Low birth weight
- Intellectual disability
Preliminary plan:
- General practitioner appointment
- Pediatrician appointment
- Complete blood count (CBC)
- Reticulocyte count
- Urinalysis
- Stool analysis - Protozoans and Helminths (microscopy)
- Blood test:
- Latent iron-binding capacity
- Iron
- Vitamin B12 (cyanocobalamin)
- Transferrin
- Ferritin
- Folic acid (folates)
- Potassium Sodium Chlorine (K, Na, Cl) (blood)
- Urea (BUN)
- Creatinine
- Glucose
- Cholesterol
- Triglycerides
- Alkaline phosphatase (ALP)
- Alanine transaminase (ALT)
- Bilirubin (total, direct)
- Histological examination of bone marrow biopsy fragment
Doctors
Pediatrician
