title: Pulmonary hypertension in a case of Hb-Mainz hemolytic anemia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany. holger.lode@charite.de
authors.forename: Holger N
authors.initials: HN
authors.lastname: Lode
authors.forename: Gregor
authors.initials: G
authors.lastname: Krings
authors.forename: Ingram
authors.initials: I
authors.lastname: Schulze-Neick
authors.forename: Steffen
authors.initials: S
authors.lastname: Dähmlow
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schroeder
authors.forename: Ragnhild
authors.initials: R
authors.lastname: Bonnet
authors.forename: Joao
authors.initials: J
authors.lastname: DaPalma
authors.forename: Werner
authors.initials: W
authors.lastname: Luck
authors.forename: Gabriele
authors.initials: G
authors.lastname: Strauss
authors.forename: Felix
authors.initials: F
authors.lastname: Berger
authors.forename: Gerhard
authors.initials: G
authors.lastname: Gaedicke
mesh_terms: 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
chemical_list: D006455:Hemoglobins, Abnormal; D006918:Hydroxyurea