To evaluate the association between fetal hemoglobin (HbF) levels and morbidity in β-thalassemia intermedia (TI), we analyzed data from 63 untransfused patients who had also never received HbF induction therapy. Patient records were reviewed for any history of 10 predefined morbidities. Laboratory measurements for markers of ineffective erythropoiesis were also obtained. The mean age of patients was 32.1 years, 47.6% were males, and the median HbF level was 37.2%. HbF levels correlated positively with total hemoglobin, yet negatively with growth differentiation factor-15 and non-transferrin-bound iron levels. Median HbF levels were significantly lower in patients with the majority of evaluated morbidities than in those without. There was a strong negative adjusted linear correlation between the HbF level and the total number of morbidities (R(2) = 0.825, P < .001). The HbF threshold of 63.7% had 95.5% sensitivity and 100% specificity for ensuring absence of morbidity. There exists a strong association between HbF levels and morbidity in the subset of untransfused patients with TI.
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http://dx.doi.org/10.1182/blood-2011-09-382408 | DOI Listing |
Ann Intern Med
December 2024
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, and School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel (H.B.F.).
Background: Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a few congenital or familial cases described. The cause of YNS remains largely unknown, although defects in lymphatic vessel development are suggested to play a significant role.
View Article and Find Full Text PDFAdv Lab Med
December 2024
Department of Laboratory Service, Área de Gestión Sanitaria Norte de Huelva, Hospital de Riotinto, Minas de Riotinto, Huelva, Spain.
Objectives: To describe a variant hemoglobin that interferes with HbA analysis by cation exchange HPLC.
Case Presentation: A 78 years-old Spanish male patient visited the Internal Medicine Clinic for a routine check-up, with HbA included to screen for diabetes. He had suffered hypertension and dyslipidemia, and the patient had no previous symptoms suggestive of diabetes such as hyperglycemia, weight loss, polydipsia, polyuria or tiredness.
Haematologica
December 2024
Department of Hematology, Amsterdam UMC, University of Amsterdam, Amsterdam.
Sickle cell retinopathy (SCR) is a complication of sickle cell disease (SCD) and can drastically impair visual acuity. Screening for SCR is therefore recommended, but evidence for optimal screening frequency on an individual level is lacking. This scoping review mapped the current evidence on risk factors for SCR and sickle cell maculopathy (SCM).
View Article and Find Full Text PDFBackground Sickle cell disease (SCD) is a genetic blood disorder characterized by abnormal hemoglobin S, leading to red blood cell deformities, chronic hemolysis, and frequent vaso-occlusive crises (VOC). While advancements in medical care have improved survival rates, adults with SCD continue to face substantial challenges in their quality of life (QoL) due to chronic pain, recurrent VOCs, and various complications. This study aimed to evaluate the health-related quality of life (HRQoL) in adult patients aged 14 years and above with SCD and identify key factors influencing patient outcomes using the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me).
View Article and Find Full Text PDFBMC Geriatr
December 2024
Department of Geriatrics and Aging Research, Center on Aging and Mobility, University of Zurich, c/o Stadtspital Zürich Waid Tièchestrasse 99, Zurich, 8037, Switzerland.
Background: Frailty is associated with multiple negative outcomes in geriatric trauma patients. Simultaneously, frailty assessment including physical measurements for weakness (grip strength) and slowness (gait speed) poses challenges in this vulnerable patient group. We aimed to compare the full 5-component Fried Frailty Phenotype (fFP) and a condensed model (cFP) without physical measurements, with regard to predicting hospital length of stay (LOS) and discharge disposition (DD).
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