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1.  Hemoglobin H-constant spring in North America: an alpha Thalassemia with frequent complications 
American journal of hematology  2009;84(11):759-761.
Hemoglobin H-constant spring (Hb H-CS), the most common nondeletional alpha thalassemia in Asia is increasingly recognized in North America due to shifts in immigration patterns. In California, alpha (α)-thalassemia syndromes are the second most frequent finding among newborns screened for hemoglobinopathies with a two-fold increase compared to a decade earlier [1,2]. Though known to have a more severe anemia than Hb H disease, the other clinical findings of Hb H-CS are not well described. Moreover, beneficial therapies that have become available in the last decade are often not applied to their care. This analysis of 46 patients enrolled in the Thalassemia Clinical Research Network (TCRN) age 13+/− 10 years old, with Hb H-CS revealed moderate anemia (mean 8.7 ± 1.5 g/dl), regular transfusion therapy in 24% of patients, and splenomegaly or prior splenectomy in one-third of them. Serum transferin receptor (sTfr), was elevated; (44.4 ± 18 mcg/ml normal range 2.9–8.3 mcg/ml), reflecting ineffective erythropoiesis, which in turn leads to high iron absorption and increased ferritin levels in younger (median = 187 ng/ml) and older (median = 465 ng/ml) nontransfused patients. These findings along with moderate growth delay and low bone mass were more prevalent in Hb H-CS patients compared to deletional Hb H disease. Our results highlight the required monitoring of the extent of anemia, growth, splenomegaly, iron overload, gallstones, bone density and assessment of need for transfusions and specific treatments for disease complications.
doi:10.1002/ajh.21523
PMCID: PMC4254706  PMID: 19787795
2.  Education and Employment Status of Children and Adults with Thalassemia in North America 
Pediatric blood & cancer  2010;55(4):678-683.
Background
Advances in the management of thalassemia have resulted in increased life expectancy and new challenges. We conducted the first survey of education and employment status of people with thalassemia in North America.
Procedures
A total of 633 patients (349 adults and 284 school age children) enrolled in the Thalassemia Clinical Research Network (TCRN) registry in Canada and the US were included in the data analysis. Predictors considered for analysis were age, gender, race/ethnicity, site of treatment (Canada vs. United States), transfusion and chelation status, serum ferritin, and clinical complications.
Results
Seventy percent of adults were employed of which 67 percent reported working full-time. Sixty percent had a college degree and 14% had achieved some post college education. Eighty-two percent of school age children were at expected grade level. In a multivariate analysis for adults, Whites (OR=2.76, 95% CI: 1.50-5.06) were more likely to be employed compared to Asians. Higher education in adults was associated with older age (OR=1.67, 95% CI: 1.29-2.15), female gender (OR=2.08, 95% CI: 1.32-3.23) and absence of lung disease (OR=14.3, 95% CI: 2.04-100). Younger children (OR=5.7 for 10 year increments, 95% CI: 2.0 – 16.7) and Canadian patients (OR=5.6, 95% CI: 1.5-20) were more likely to be at the expected education level. Neither transfusion nor chelation was associated with lower employment or educational achievement.
Conclusions
Individuals with thalassemia in North America can achieve higher education; however, full-time employment remains a problem. Transfusion and chelation do not affect employment or education status of this patient population.
doi:10.1002/pbc.22565
PMCID: PMC2932798  PMID: 20535817
Employment; Education; Thalassemia
3.  Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem 
Adults with β thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence of low BMD, fractures, and bone pain in all thalassemia syndromes in childhood, adolescence, and adulthood, associations of BMD with fractures and bone pain, and etiology of bone disease in thalassemia. Patients of all thalassemia syndromes in the Thalassemia Clinical Research Network, ≥6 yr of age, with no preexisting medical condition affecting bone mass or requiring steroids, participated. We measured spine and femur BMD and whole body BMC by DXA and assessed vertebral abnormalities by morphometric X-ray absorptiometry (MXA). Medical history by interview and review of medical records, physical examinations, and blood and urine collections were performed. Three hundred sixty-one subjects, 49% male, with a mean age of 23.2 yr (range, 6.1–75 yr), were studied. Spine and femur BMD Z-scores < −2 occurred in 46% and 25% of participants, respectively. Greater age, lower weight, hypogonadism, and increased bone turnover were strong independent predictors of low bone mass regardless of thalassemia syndrome. Peak bone mass was suboptimal. Thirty-six percent of patients had a history of fractures, and 34% reported bone pain. BMD was negatively associated with fractures but not with bone pain. Nine percent of participants had uniformly decreased height of several vertebrae by MXA, which was associated with the use of iron chelator deferoxamine before 6 yr of age. In patients with thalassemia, low BMD and fractures occur frequently and independently of the particular syndrome. Peak bone mass is suboptimal. Low BMD is associated with hypogonadism, increased bone turnover, and an increased risk for fractures.
doi:10.1359/jbmr.080505
PMCID: PMC3276604  PMID: 18505376
DXA; BMD; fractures; vertebral morphometry; thalassemia
4.  Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study 
European Journal of Haematology  2008;80(2):168-176.
Objectives/methods
This 1-yr prospective phase II trial evaluated the efficacy of deferasirox in regularly transfused patients aged 3–81 yrs with myelodysplastic syndromes (MDS; n = 47), Diamond–Blackfan anaemia (DBA; n = 30), other rare anaemias (n = 22) or β-thalassaemia (n = 85). Dosage was determined by baseline liver iron concentration (LIC).
Results
In patients with baseline LIC ≥7 mg Fe/g dry weight, deferasirox initiated at 20 or 30 mg/kg/d produced statistically significant decreases in LIC (P < 0.001); these decreases were greatest in MDS and least in DBA. As chelation efficiency and iron excretion did not differ significantly between disease groups, the differences in LIC changes are consistent with mean transfusional iron intake (least in MDS: 0.28 ± 0.14 mg/kg/d; greatest in DBA: 0.4 ± 0.11 mg/kg/d). Overall, LIC changes were dependent on dose (P < 0.001) and transfusional iron intake (P < 0.01), but not statistically different between disease groups. Changes in serum ferritin and LIC were correlated irrespective of disease group (r = 0.59), supporting the potential use of serum ferritin for monitoring deferasirox therapy. Deferasirox had a safety profile compatible with long-term use. There were no disease-specific safety/tolerability effects: the most common adverse events were gastrointestinal disturbances, skin rash and non-progressive serum creatinine increases.
Conclusions
Deferasirox is effective for reducing iron burden with a defined, clinically manageable safety profile in patients with various transfusion-dependent anaemias. There were no disease-specific adverse events. Once differences in transfusional iron intake are accounted for, dose-dependent changes in LIC or serum ferritin are similar in MDS and other disease groups.
doi:10.1111/j.1600-0609.2007.00985.x
PMCID: PMC2268958  PMID: 18028431
iron chelation; deferasirox; Exjade, ICL670; myelodysplastic syndromes; thalassaemia; Diamond–Blackfan anaemia

Results 1-4 (4)