Screening for hereditary spherocytosis in daily practice: what is the best algorithm using erythrocyte and reticulocyte parameters?

Hereditary spherocytosis (HS) is the most common inherited chronic haemolytic anaemia in Northern Europe. During the last decade, additional erythrocyte and reticulocyte parameters have been developed on last-generation haematology analysers, leading to many publications about their effectiveness as a HS screening tool. For the first time on an independent cohort, we evaluated and compared the effectiveness of six published algorithms for the screening of HS using the UniCel DxH800 (Beckman-Coulter) and the XN-9000 (Sysmex) and determined which algorithm could be the most suitable in our daily clinical practice. A total of 95 EDTA samples were analysed prospectively on both haematology analysers. These included 11 confirmed HS patients and 84 non-HS patients. The specific reticulocyte parameters used on the DxH800 were mean reticulocyte volume, immature reticulocyte fraction and mean sphered cell volume, and on the XN-9000 were hypohaemoglobinised erythrocytes, microcytic erythrocytes and immature reticulocyte fraction. The three algorithms using parameters specific to Beckman-Coulter analysers provided a sensitivity of 100% with various specificities, ranging from 7.1 to 73.8%. The three algorithms published based on the parameters specific to Sysmex showed much lower performances, i.e. out of the 11 patients with HS, between one to five patients were screened as negative for HS. However, 100% sensitivity and specificity were reached using the EMA binding test concomitantly with those three algorithms. The algorithms using reticulocyte and erythrocyte parameters offered by the recent analysers are promising options as a HS first-tier screening tool. Nevertheless, they must be evaluated by each laboratory on their own analyser before implementation.

Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/ß+-thalassemia traits in an immigrant Afghan family.

We report on a Pashtun family affected by haemoglobin D-Punjab/ß+-thalassemia to increase the awareness of the increasing prevalence of haemoglobinopathies among primary care physicians. We highlight the diagnostic approach of these conditions and the benefits of genetic counselling.

Developing an Artificial Intelligence (A.I)-based descriptor of facial appearance that fits with the assessments of makeup experts.

OBJECTIVE: To develop an A.I-based automatic descriptor that detects and grades, from selfie pictures, 23 facial signs, hairs included, as a help to making-up procedures. MATERIAL AND METHODS: The selfie images taken in very different conditions by 3326 women and men were used to create (90% of dataset) and validate (10% of dataset) a new algorithm architecture to appraise and grade 23 different facial signs such as lips, nose, eye color, eyebrows, eyelashes, and hair color as defined by makeup artists. Each selfie image was annotated by 12 experts and defined references to train Artificial Intelligence (A.I)-based algorithm. RESULTS: As some the 23 signs present a continuous or discontinuous feature, these were analyzed by two different statistical approaches. The results provided by the automatic descriptor system were not only in good agreement with the expert's assessments but were even found of a better precision and reproducibility. This automatic descriptor system has proven a good and robust accuracy despite the very variable conditions in the acquisition of selfie pictures. CONCLUSION: Such automatic descriptor system seems providing a valuable help in making-up procedures and may extend to other activities such as Skincare or Haircare. As such it should allow large investigations to better evaluate the consumers' needs of esthetical improvements.

Evaluating the respective weights of some facial signs on perceived ages in differently aged women of five ethnic origins.

BACKGROUND: New gratification assessments, after skincare routines or makeup products, could benefit from innovative methods that could predict the culturally based perceptions of age. AIMS: To determine the facial signs that most influence the perception of age in women of five different ethnic ancestries, assessed by the same ethnical naïve panel. PATIENTS/METHODS: The faces of 1351 women, differently aged (18-80 years), from five countries (China, France, India, Japan, and South Africa) were photographed under the same standardized conditions in the five countries. Fourteen to 24 facial signs (grouped under five clusters, ie, Wrinkles/Texture, Ptosis/Sagging, Pigmentation disorders, Vascular disorders, and Cheeks skin pores) were focused, and their respective severities were graded using referential Skin Aging Atlases by the same panel of 15 experts and dermatologists. Five naïve panels, all comprising 100 local women, allowed to collect the perceived age, assessed from blind-coded full-face photographs. RESULTS: Although perceived ages and real ages were found highly correlated, their differences vary according to ethnicities, particularly among a large part of Indian and South African women, judged older by about 5 and 7 years, respectively. Results show that the clusters of Wrinkles/Texture and Ptosis/Sagging are predominant factors taken into account in almost all ethnicities, albeit at various extents, reaching almost 100% in French women. Pigmentation disorders appear important secondary factors in Japanese, South African, and Indian women. Vascular disorders, of a difficult grading in darker skin tones, were found of some impact in Japanese and Chinese women. Cheek skin pores were of minor or nil weight in the attribution of age, at the exception of South African women. Regarding facial areas which drive aging perception, it seems the upper-half face has prevalence for Chinese and Japanese women whereas the lower-half face has major importance for South African women. CONCLUSION: Facial traits are differently perceived as signs of aging according to un-separable ethnic ancestries and cultural factors.

Gender-related differences in the facial aging of Caucasian French subjects and their relations with perceived ages and tiredness.

OBJECTIVES: (a) To assess and compare the changes in five facial signs with age between genders of Caucasian subjects and (b) to evaluate their links with perceived ages and tiredness. MATERIAL AND METHODS: Once zoomed from standardized digital photographs, five facial signs of 518 Caucasian French subjects of both genders and different ages (18-69 years) were graded by 15 experts, using a referential Skin Aging Atlas. A large naïve panel of 1000 French subjects (500 men and 500 women) was asked to attribute a perceived age and a degree of tiredness to 200 subjects (among the 518). RESULTS: The severity of the facial signs increases with time at a linear-like rate. The changes in marionette lines significantly differ between genders, much more pronounced in women, and nasolabial fold was found more pronounced in men at older ages (>50 years). Before 50's, Forehead wrinkles present a slightly higher severity in men whereas at 50's women present more severe ptosis. Crow's feet wrinkles did not show significant changes. Perceived ages were found significantly correlated with the severities of the facial signs and the perception of tiredness was associated with perceived ages in men, but not in women older than 40 years. The gender-related perceptions from the naïve panel in both perceived ages and tiredness showed a low discrepancy. Interestingly, as for changes in facial signs, the upper-half face seems more affected for men and lower-half face for women; after 40 years, the naïve panel seems more focusing on the same areas to predict a perceived age. CONCLUSION: As compared to the previous Chinese study, the present work reveals some slight ethnical-related differences, indicating that the facial signs of the lower face play a major role in the assessment of perceived age of both genders from different ethnicity.

Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family.

α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family diagnosed with α-thal trait. Molecular analysis revealed a novel large deletion of at least 170 kb between 226.68 kb (0.2 Mb) and 402.68 kb (0.4 Mb) from the telomere of 16p, leaving the subtelomeric region intact. The deletion includes both α-globin genes (HBA1 and HBA2) but also flanking genes possibly related to non hematological effects: HBQ1, LUC7L, ITFG3, RGS11, ARHGDIG, PDIA2 and AXIN1. These genes are not contained in the region (0.9 and 1.7 Mb from the telomere of 16p) associated with α-thal intellectual disability (ATR-16) syndrome. However, further research is necessary to exclude other potential effects than α-thal in patients with a large deletion at 0.2-0.4 Mb from the telomere of 16p. Genetic counseling is important for carriers of this deletion as homozygosity for the α-globin (- -/) haplotype may lead to Hb Bart's (γ4) hydrops fetalis syndrome.

Neonatal Screening for Sickle Cell Disease in Belgium for More than 20 Years: An Experience for Comprehensive Care Improvement.

Our previous results reported that compared to sickle cell patients who were not screened at birth, those who benefited from it had a lower incidence of a first bacteremia and a reduced number and days of hospitalizations. In this context, this article reviews the Belgian experience on neonatal screening for sickle cell disease (SCD). It gives an update on the two regional neonatal screening programs for SCD in Belgium and their impact on initiatives to improve clinical care for sickle cell patients. Neonatal screening in Brussels and Liège Regions began in 1994 and 2002, respectively. Compiled results for the 2009 to 2017 period demonstrated a birth prevalence of sickle cell disorder above 1:2000. In parallel, to improve clinical care, (1) a committee of health care providers dedicated to non-malignant hematological diseases has been created within the Belgian Haematology Society; (2) a clinical registry was implemented in 2008 and has been updated in 2018; (3) a plan of action has been proposed to the Belgian national health authority. To date, neonatal screening is not integrated into the respective Belgian regional neonatal screening programs, the ongoing initiatives in Brussels and Liège Regions are not any further funded and better management of the disease through the implementation of specific actions is not yet perceived as a public health priority in Belgium.

Impact of pigmentary disorders on quality of life in Japan: Interest of the BeautyQoL instrument.

Skin pigmentary disorders and uneven skin tone represent common cosmetic concerns in Japan where fairer skin is culturally desirable. As the demographics of Asian countries continue to evolve, there is a need to understand the impact of cosmetic skin concerns on quality of life (QoL). 199 Japanese women self-claiming facial skin pigmentation disorders were asked to complete the BeautyQoL questionnaire, and the results were compared with those of a control group of 200 women. Of the five dimensions of the BeautyQoL questionnaire, the dimension "mood" appeared to be significantly lower in the group presenting facial dark spots, as compared with the control group (p < 0.05). In the group presenting facial dark spots, the five dimensions and the global score showed that subjects concerned had lower scores than subjects less concerned, even if statistical significance was not reached. This study confirms that common pigmentary disorders such as facial black spots may negatively impact QoL. Further comparative studies with a controlled randomized design would be necessary to confirm these findings.