Rare form of autosomal dominant thalassemia--hemoglobin Hakkari.

Autosomal dominant Beta Thalassemias are rare and are due to point or frame shift mutations resulting in production of abnormal unstable beta chains of hemoglobin which precipitate leading to hemolysis and anemia. We describe a case of Hemoglobin Hakkari, a rare variant of dominant Thalassemia arising due to a de novo mutation in the exon 2 of the beta globin gene.

Transfusion practices in the management of sickle cell disease: a survey of Florida hematologists/oncologists.

The purpose of this study was to characterize transfusion practices in the management of sickle cell disease and to identify factors attributing to differences in prescribing practices among Florida hematologists/oncologists. A cross-sectional study was performed in 2005-2006 utilizing a mail survey. The survey instrument addressed practice characteristics, sickle cell patient populations, transfusion settings, indications and techniques, red blood cell phenotype specifications/modifications, use of practice guidelines, and educational resource utilization. One hundred fifty two physicians (75% adult-oriented, 25% pediatric) completed the survey. Non-academic practice settings (78 %) were the primary location. Pediatric practices had a larger percentage of patients with overt strokes, and receiving hydroxyurea therapy than adult-oriented practices. The majority of survey respondents did not request limited phenotypically matched red blood cells on a routine basis. The majority of pediatric practices (60%) had individually defined transfusion practice guidelines in contrast to 8% of adult-oriented practices. There were statistically significant differences for pediatric and adult-oriented practices in managing certain acute and chronic transfusion indications. Analysis of clinical vignette data revealed variation among hematologists/oncologists in the transfusion management of common clinical scenarios. The study underscores the need for the development and dissemination of comprehensive sickle cell transfusion guidelines and protocols.

Development and evaluation of a patient empowerment video to promote hydroxyurea adoption in sickle cell disease.

BACKGROUND: For the last decade, compelling evidence on hydroxyurea (HU) efficacy in certain adult patients with sickle cell disease (SCD) has supported recommendations for use of this drug to decrease morbidity and medical costs. Despite these benefits, HU therapy is underused in patients meeting treatment criteria. The purpose of this study was to develop and evaluate an educational video to empower patients and their families to initiate a conversation with their physicians on the benefits and risks of HU, encouraging a shared decision-making process. METHODS: Patients with SCD and physicians with prominence in the sickle cell community were selected to participate in the video based on their communication skills. They were encouraged to answer interview questions on camera with language that could be easily understood by all patients. Two focus groups participated in the development process verifying the messages in the video were clear and easy to understand. A pre- and postdesign survey of patients was performed to assess patient acceptability and utility of the video. RESULTS: A 15-minute educational video was produced and modified from input of the focus groups. Impact of the refined educational video was evaluated with a patient survey. Patients expressed a strong desire after viewing the video to learn about potential benefits of HU. Furthermore, the video was useful in heightening the intent of patients to ask their health care providers about HU therapy.