A – Autosomal Recessive Inheritance
Both parents must carry a mutated FA gene for the child to develop the disorder.
B – Bone Marrow Failure
The hallmark of FA, leading to anemia, thrombocytopenia (low platelets), and neutropenia (low white blood cells).
C – Cancer Risk
High risk of developing acute myeloid leukemia (AML), head and neck cancers, and other solid tumors.
D – DNA Repair Defect
FA is caused by mutations in at least 23 known genes that help repair DNA damage.
E – Early Diagnosis is Crucial
Timely identification can prevent life-threatening complications.
F – Facial & Skeletal Abnormalities
Short stature, abnormal thumbs or forearms, kidney issues, and skin discoloration are common.
G – Genetic Testing
Essential for confirming the diagnosis and guiding treatment or family planning.
H – Hypersensitivity to Chemicals
Patients are extremely sensitive to radiation, chemotherapy, and DNA-damaging agents.
I – Infections
Frequent due to low immunity; routine vaccinations and hygiene are essential.
J – Joint Management
Multidisciplinary care involving hematologists, geneticists, and pediatricians is recommended.
K – Kidney and Urinary Tract Abnormalities
Renal defects are often present in FA cases.
L – Leukemia Screening
Lifelong cancer screening is necessary due to elevated risk.
M – Morphological Signs
Physical anomalies include café-au-lait spots, low birth weight, and developmental delays.
N – Neurological Effects
Some patients may have mild cognitive delays or learning difficulties.
O – Organ System Involvement
FA can affect heart, kidney, liver, and gastrointestinal systems.
P – Psychological Support
Emotional counseling is vital for both patients and their families.
Q – Quality of Life Support
Nutritional, educational, and physical therapies improve daily living.
R – Radiographic Studies
Helpful in evaluating skeletal and organ anomalies.
S – Stem Cell Transplant (HSCT)
Currently the only curative therapy for bone marrow failure in FA.
T – Transfusions
Required periodically to manage low blood counts.
U – Unidentified Mutations
Some FA cases remain genetically undefined and need research-based tests.
V – Vigilance
Lifelong monitoring is essential to detect complications early.
W – Who Should Be Tested?
Children with anemia, developmental abnormalities, or family history of FA.
X – X-Ray and Imaging
Support the diagnosis of physical abnormalities.
Y – Yearly Checkups
Regular follow-ups prevent disease progression.
Z – Zero Neglect
Ignoring symptoms can be fatal. Early testing saves lives.
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