[Health status and quality of life in ß-thalassemia adults in Marseille, France]. / État de santé et qualité de vie des patients ß-thalassémiques adultes à Marseille, France.

INTRODUCTION: The life expectancy of ß-thalassemia patients has increased over the last 20 years. In this study, we evaluated the current health status and quality of life of these patients managed in a reference center in Marseille. METHODS: This is a single-center, descriptive study conducted between June and August 2019 in patients over 18 years of age with ß-thalassemia major or intermedia. Clinical and paraclinical data were collected retrospectively and the SF-36 health survey questionnaire was proposed to each patient. RESULTS: 43 of 64 selected patients were included and divided into 2 groups: 35 patients with transfusion-dependent ß-thalassemia and 8 patients with non-transfusion-dependent ß-thalassemia. Liver iron overload is the most frequent complication, present in 80% of transfusion-dependent and 62.5% of non-transfusion-dependent patients. Cardiac iron overload is present only in the transfusion dependent ß-thalassemia group (20%). Hypogonadotropic hypogonadism remains the most common endocrine disorder (41.9%) followed by osteoporosis (37.2%). Among the 31 patients who completed the SF-36 questionnaire, physical and mental quality of life scores were lowered in transfusion dependent (respectively 42.7 and 46.8) as in non-transfusion-dependent patients (respectively 43.8 and 28.9). CONCLUSION: Despite an improvement in medical care, our patients with ß-thalassemia show an alteration in their quality of life that will need to be characterized in the entire French cohort.

Homing of granulocytes transfused in perineal cellulitis in a RAC2 deficiency child monitored by chimerism quantification methods.

Granulocyte transfusions can be used to treat infections when appropriate antibiotic and anti-fungal drugs have proved ineffective. We report a case of clinical efficacy of 18 granulocyte transfusions for perineal cellulitis in a 3-week-old RAC2-deficient newborn girl. This RAC2 deficiency is characterized by severe phagocyte defects including defective superoxide formation, adhesion and chemotaxis deficiency. In order to check that the granulocytes infused had reached the lesion site, the infiltration of donor cells was quantified by next generation sequencing (NGS) and digital droplet PCR after identification of DNA specific markers for donor and patient. After the 6th transfusion, 20% circulating cells and 55% cells isolated by swabbing from the lesion site were donor cells, confirming the infiltration of polynuclear cells in the perineal lesion site. These results strengthen the indication of granulocyte transfusions, and its continuation until the healing process of the skin is complete. This clinical case report highlights the potential efficacy of granulocyte transfusions to treat skin lesions in RAC2-deficient patients, a process which could be monitored by molecular biology tools for chimerism quantification.