title: Effect of genotype on pulmonary hypertension risk in patients with thalassemia.
abstract: BACKGROUND
  Pulmonary hypertension is one of the major complications in patients with non-transfusion-dependent thalassemia (NTDT). Patients with NTDT have distinct genetic subgroups. Therefore, the effects of different genotype groups on pulmonary hypertension risk in patients with NTDT were assessed.
  
  
  METHODS
  A cross-sectional study was conducted in patients with NTDT aged ≥ 10 yr old at Srinagarind University Hospital and Udonthani Hospital, Thailand. Pulmonary hypertension risk was defined as peak tricuspid regurgitation velocity > 2.9 m/s by trans-thoracic echocardiography. Clinical characteristics and laboratory data that literature has indicated as risk factors for pulmonary hypertension were collected. The effect of genotype group on pulmonary hypertension risk was evaluated by using multivariate logistic regression analysis.
  
  
  RESULTS
  Of 219 patients, pulmonary hypertension risk was found in 24 patients (10.96%). All patients were categorized into two groups according to genetic data that included: (i) β-thalassemia (139, 63.5%), (ii) α-thalassemia and combined α and β-thalassemia (80, 36.5%). Genotype groups were statistically and significantly associated with pulmonary hypertension risk based on the adjusted odds ratios after adjustment for other factors. Patients with β-thalassemia had a statistically significant higher risk for pulmonary hypertension risk (odds ratio = 9.47, P = 0.036) compared to patients with α-thalassemia and patients with combined α and β-thalassemia.
  
  
  CONCLUSIONS
  The genotype group is an independent risk factor for pulmonary hypertension in patients with NTDT. Echocardiography should be routinely recommended for all patients with β-thalassemia. Routine screening in patients with α-thalassemia and combined α and β-thalassemia, however, may not be necessary or should focus on the older population.
authors.affiliation: Division of Hematology, Department of Internal Medicine, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Nattiya
authors.initials: N
authors.lastname: Teawtrakul
authors.forename: Phuangpaka
authors.initials: P
authors.lastname: Ungprasert
authors.forename: Burabha
authors.initials: B
authors.lastname: Pussadhamma
authors.forename: Patcharawadee
authors.initials: P
authors.lastname: Prayalaw
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
authors.forename: Arunee
authors.initials: A
authors.lastname: Jetsrisuparb
authors.forename: Saranya
authors.initials: S
authors.lastname: Pongudom
authors.forename: Chittima
authors.initials: C
authors.lastname: Sirijerachai
authors.forename: Kanchana
authors.initials: K
authors.lastname: Chansung
authors.forename: Chinadol
authors.initials: C
authors.lastname: Wanitpongpun
authors.forename: Suporn
authors.initials: S
authors.lastname: Chuncharunee
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003430:Cross-Sectional Studies; D005260:Female; D005838:Genotype; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D016017:Odds Ratio; D012307:Risk Factors; D013785:Thailand; D014262:Tricuspid Valve Insufficiency / Q000000981:diagnostic imaging / Q000503:physiopathology; D014463:Ultrasonography; D017085:alpha-Thalassemia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D017086:beta-Thalassemia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology
keywords: genotype; pulmonary hypertension; thalassemia