Chapter 11 Heme Biosynthesis and Its Disorders
Figure 11-1 NEEDLE-LIKE INCLUSIONS OF PORPHYRIN IN THE CIRCULATING RED CELLS OF A PATIENT WITH CONGENITAL PORPHYRIA AFTER SPLENECTOMY.
(From Merino A, To-Figueras J, Herrero C: Atypical red cell inclusions in congenital erythropoietic porphyria. Br J Haematol 132:124, 2006.)
Figure 11-2 A, Peripheral blood smear from a patient with hereditary sideroblastic anemia shows a population of hypochromic and microcytic erythrocytes. B, Erythrocyte volume distribution curve of a patient with hereditary sideroblastic anemia. A dimorphic size distribution is evident. C, Peripheral blood showing Pappenheimer bodies (Prussian blue stain). D, The bone marrow smear stained with Prussian blue shows ring sideroblasts.
Idiopathic acquired* (refractory anemia with ring sideroblasts)
Associated with previous chemotherapy, irradiation, or in transition myelodysplasia or myeloproliferative diseases
*Trial of pyridoxine indicated.
Therapy for Hereditary Sideroblastic Anemia
A trial of pyridoxine (100 to 200 mg/day taken orally) is indicated for 3 months for all patients with hereditary sideroblastic anemia. Response is variable and ranges from complete correction of hemoglobin levels to no effect. Even when pyridoxine completely corrects the anemia, the increase in mean corpuscular volume (MCV) may not reach normal values, and a population of hypochromic, microcytic cells remains.