A case report of concomitant paroxysmal nocturnal hemoglobinuria and heterozygous ß-thalassemia.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal blood disorder that presents chronic intravascular hemolysis. PNH concomitant with inherited hemolytic anemia has been rarely reported. Here, we report an interesting PNH patient who was misdiagnosed with iron deficiency anemia due to concomitant heterozygous ß-thalassemia. The patient experienced dizziness, fatigue, and restricted physical activity for the previous 3 years. Thalassemia gene analysis revealed heterozygous ß-thalassemia. Iron staining of the bone marrow demonstrated the absence of stainable iron and sideroblasts. The patient was diagnosed with iron deficiency anemia. Iron supplementation treatment was performed, but the anemia remained unresolved. The patient became transfusion dependent 1 year later and was admitted to our hospital in March 2010. Flow cytometry of the patient's peripheral blood demonstrated that 7.9% and 11.9% of the erythrocytes were CD59 and CD55 deficient, respectively. The patient was finally diagnosed with concomitant PNH and heterozygous ß-thalassemia.

[Marchiafava-Micheli syndrome and pregnancy]. / Maladie de Marchiafava-Micheli et grossesse.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disorder characterized by sensitive populations of erythrocytes, granulocytes and platelets. PNH is a disease of young adults with a slight female predominance. Several complications of PNH during pregnancy, could be prevented; chronic anemia, folate and iron deficiency, deep vein thrombosis. We report seven pregnancies, six of which were successful in four patients. One pregnancy was terminated after 25 weeks by a fetal death during an acute hemolytic crisis. Diagnosis of PNH was made in the four patients before the pregnancy by the acidified serum lysis assay and the sucrose lysis assay. During puerperium, acute hemolytic crisis, most probably triggered by delivery, were observed in two patients. Thrombotic complications could be prevented by early initiation of an anticoagulant therapy after delivery. The only neonatal complication, observed in two cases was iso immune hemolytic anemia related to the multiple blood transfusions received before and during pregnancy. These results show that successful pregnancies are possible in PNH women when monitoring is especially close. To allow optimal fetal development, patients were transfused with saline-washed or frozen-thawed packed red-cells to prevent the precipitation of hemolysis, so that the hemoglobin level remained higher than 10 g/dl. During the whole pregnancy, patients had to be given dietary supplementation with folic acid and iron therapy whenever deficiency was demonstrated, under close surveillance of hemolysis. To prevent thrombotic complications during pregnancy, anticoagulant therapy was used if the patients had to be bedridden, or within 8 hours following delivery.