aplasic anemia

APLASTIC ANAEMIA

Primary idiopathic acquired aplastic anaemia:
The basic problem is failure of the pluripotent stem cells, producing hypoplasia of the bone marrow with a pancytopenia in the blood.

The diagnosis rests on exclusion of other causes of secondary aplastic anaemia and rare congenital causes, such as Fanconi’s anaemia. IAPLASTIC

What is Fanconi Anemia?

Fanconi Anemia is an autosomal recessive disorder.
We all have FA genes.
Known mutations involved: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, and FANCM (Kennedy and D’Andrea, 2006).

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What is Fanconi Anemia?
Fanconi Anemia predisposes an individual to numerous types of cancer, including acute myeloid leukemia, breast cancer, squamous cell carcinoma of the head and neck, and cancers of the gynecological system, skin, esophagus, liver, and kidney.

FA Role in Haemopoiesis

Common presentations of patients with Fanconi Anemia:
Anemia
Pancytopenia
Bone marrow hypoplasia
Thrombocytopenia
Gene therapy to target this role of FA genes in individuals with FA gene mutations.

Symptoms & Signs

• Low Birth Weight Short stature










Absence of or malformity in hands and arms, for example the absence of a thumb or the presence of polydactyly

Café-au-lait spots

Horseshoe Kidney

Clinical features and investigations
symptoms of bone marrow failure,
1.Anaemia
2.Bleeding
3. Infection
Complete Blood Count(CBC) :
Pancytopenia.
Reticulocytopenia.
Bone marrow aspiration and biopsy reveal hypocellular marrow.

Treatment

1.The curative treatment for patients under 30 years of age with severe idiopathic aplastic anaemia is allogeneic Hematopoietic Stem Cell Trasplantation (HSCT) if there is an available donor.


2. In older patients, immunosuppressive therapy
with ciclosporin and antithymocyte globulin.
Such patients may relapse or other clonal disorders of haematopoiesis may evolve, such as paroxysmal nocturnal haemoglobinuria, myelodysplastic syndrome and acute myeloid leukaemia

Causes of secondary aplastic anaemia

• Drugs
Cytotoxic drugs
Antibiotics – chloramphenicol, sulphonamides
Antirheumatic agents – penicillamine, gold,
phenylbutazone, indometacin
Antithyroid drugs
Anticonvulsants
Immunosuppressants – azathioprine
• Chemicals
Benzene toluene solvent misuse – glue-sniffing
Insecticides – chlorinated hydrocarbons (DDT),
organophosphates and carbamates
• Radiation
• Viral hepatitis
• Pregnancy
• Paroxysmal nocturnal haemoglobinuria