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Quality of Life in Patients with Thalassemia Intermedia Compared to Thalassemia Major

Abstract: The impact of thalassemia major and thalassemia intermedia and their associated complications on quality of life (QOL) is largely unknown. Determining the degree of health impairment as perceived by the patient is essential information needed to recommend suitable therapy. The objective of this study was to evaluate QOL in transfusion‐independent patients with thalassemia (non‐Tx) compared with that in transfused patients (Tx) and to identify the factors that affect QOL in thalassemia. A convenient sample of 48 thalassemia patients (29 Tx and 19 non‐Tx) with mean age of 14.6 years (SD = 7.5 years) were selected during a comprehensive visit to complete a Dartmouth Primary Care Cooperative Information Chart System (COOP) questionnaire. Patients rated QOL from excellent (1) to poor (5) on five dimensions of health status. Scores of 4 or 5 represent major limitations. These results were augmented by a brief medical history and chart review. Forty‐one percent of Tx patients and 47% of non‐Tx patients reported severe impairments in 1‐6 and 1‐2 domains, respectively. The most commonly reported affected domains were feelings such as anxiety, depression, and concern of overall health status or indications of recent deterioration in health. In contrast with previous beliefs, transfusion‐independent thalassemia patients also suffer serious impairment in QOL. Presented data suggest that all patients with thalassemia undergo QOL assessment so that interventions focused on affected domains can be implemented.

Quality of life in thalassemia: A comparison of SF‐36 results from the thalassemia longitudinal cohort to reported literature and the US norms

Thalassemia is a chronic, inherited blood disorder, which, in its most severe form, causes life-threatening anemia. Advances in treatment have led to increased life expectancy however the need for chronic blood transfusions and chelation therapy remains a significant burden for patients. Our study compared health related quality of life (HRQOL) from the Thalassemia Clinical Research Networks (TCRNs) Thalassemia Longitudinal Cohort (TLC) study to US norms and assessed association with clinical variables. There were 264 patients over age 14 who completed the Medical Outcomes Study 36-Item Short Form Health Survey version 2 (SF36v2) baseline assessment. When compared to US norms, TLC patients had statistically significant (P < 0.05) worse HRQOL on five of the eight subscales (physical functioning, role-physical, general health, social functioning, and role-emotional) and on both summary scales (physical component summary and mental component summary). Women, older patients, and those with more disease complications and side effects from chelation reported lower HRQOL. In general, adolescents and adults with thalassemia report worse HRQOL than the US population, despite contemporary therapy. The SF-36 should become a standard instrument for assessing HRQOL in thalassemia to determine predictors of low HRQOL which may be better addressed by a multidisciplinary team.

Outcomes of Preimplantation Genetic Diagnosis Therapy in Treatment of β‐Thalassemia: A Retrospective Analysis

Abstract: Thalassemia is one of the most common single‐gene disorders that can be cured by hematopoietic stem cell transplantation (HCT) from a human leukocyte antigen (HLA)‐identical sibling donor. In families that have an affected child, preimplantation genetic diagnosis (PGD) can be used to select an unaffected, HLA‐identical embryo. In brief, this procedure requires in vitro fertilization, oocyte retrieval, fertilization, and blastomere biopsy for identification of unaffected HLA‐identical embryos. After delivery, umbilical cord blood from the sibling donor is collected for HCT. The objective of this study was to determine the outcomes of families using PGD therapy for cure of β‐thalassemia and to review the limitations of PGD therapy. Families affected with β‐thalassemia who attempted PGD therapy were retrospectively identified and reviewed for indication, attempted cycles, successful pregnancy, and transplantation outcomes. Eight identified families affected by thalassemia underwent PGD. The diagnosis of their affected children included six cases of β‐thalassemia major and two cases of transfusion‐dependent hemoglobin E‐β‐thalassemia patients. A total of 14 cycles of PGD were attempted, ranging from one to four attempts per family. Following successful identification of HLA‐identical cells, two pregnancies occurred, of which one resulted in engraftment of a β‐thalassemia child. PGD therapy offers the possibility of recruiting a suitable donor for HCT, yet is limited by financial cost due to labor‐intensive techniques, low probability of obtaining an HLA‐matched unaffected embryo, variable implantation capacity, and significant emotional impact. Improvements in PGD therapys efficacy and cost will make this a more viable option for affected families.

Utility of Holter electrocardiogram in iron-overloaded hemoglobinopathies

Abstract: Cardiac arrhythmias are among the leading causes of morbidity and mortality of transfusion‐dependent, iron‐overloaded β‐thalassemia patients. Routine screening with Holter electrocardiogram has been recommended; however, infrequent electrocardiographic changes limit its clinical usefulness. The purpose of this study was to determine the diagnostic yield of Holter electrocardiogram monitoring and its correlation with patient symptoms and disease status. A retrospective analysis was performed on 27 transfusion‐dependent thalassemia patients who underwent cardiac questionnaire and Holter screening yearly, in addition to echocardiogram and quantitative iron‐level determination. Four patients had clinically significant arrhythmias detected on Holter screening, while 2 patients developed severe cardiac complications secondary to arrhythmias within 1 year of follow‐up of normal Holter screening. Early detection of cardiac events among transfusion‐dependent thalassemia patients with Holter electrocardiography is not clinically effective. Other screening modalities, including the transtelephonic event recorder, should be evaluated in arrhythmia surveillance.