Pulmonary hypertension in a case of Hb-Mainz hemolytic anemia.
The development of pulmonary arterial hypertension (PAH) is the leading cause of mortality in patients with thalassemia and sickle cell anemia and was reported to occur in hemolytic anemias such as hereditary stomatocytosis, and paroxysmal nocturnal hemoglobinuria. Here, we report for the first time on the development of PAH in a patient with Hb-Mainz hemolytic anemia. Hb-Mainz is an unstable hemoglobin variant resulting from mutations at codon 98 of the beta chain gene (Val>Glu) characterized by severe chronic hemolytic anemia. The development of PAH in this patient further supports the contention that there is a clinical syndrome of hemolysis-associated development of PAH.
Lode
Holger N
HN
Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany. holger.lode@charite.de
Krings
Gregor
G
Schulze-Neick
Ingram
I
Dähmlow
Steffen
S
Schroeder
Ulrike
U
Bonnet
Ragnhild
R
DaPalma
Joao
J
Luck
Werner
W
Strauss
Gabriele
G
Berger
Felix
F
Gaedicke
Gerhard
G
D000328:Adult; D000743:Anemia, Hemolytic / Q000150:complications* / Q000235:genetics / Q000628:therapy; D001803:Blood Transfusion / Q000379:methods; D002908:Chronic Disease; D005500:Follow-Up Studies; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D006976:Hypertension, Pulmonary / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008297:Male; D012680:Sensitivity and Specificity; D013156:Splenectomy; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome
D006455:Hemoglobins, Abnormal; D006918:Hydroxyurea