Type 1: Hereditary Sideroblastic Anemia (SA)
A sex-linked, recessive disorder primarily affecting males and is the more severe form. This form is not common and tends to be progressive, requiring transfusion support. This is a recessive autosomal-linked SA. This usually appears after the age of seven, but can manifest in infancy. It is very rare but this form has been reported as manifesting symptomatically around the age of sixty.
A few of these patients may demonstrate hepatomegaly.
Clinical laboratory findings include:
- WBC count is usually normal, but may be decreased
- Platelet count is variable.
- Reticulocyte Production Index is usually <2.0.
- A moderate to severe anemia is present with a dimorphic RBC’s in the stained blood film.
- Both normochromic, normocytic and hypochromic, microcytic RBC’s are observed.
- A few patients may demonstrate mild macrocytosis.
- If the blood smear appears to have an equal distribution of microcytes and normocytes, the indices will usually be within the normal range.
- Target cells are prominent.
- Anisocytosis and poikilocytosis may be present.
- Both Pappenheimer bodies and basophilic stippling may be observed. These must be differentiated from each other.