[When HbA1c is unreliable : a case report of hereditary spherocytosis]. / Cas clinique. Quand le dosage de l'HbA1c n'est pas fiable : à propos d'un cas de sphérocytose héréditaire.

Glycated haemoglobin (HbA1c) is a biological parameter used in the management of diabetic patients. Independent of the daytime glycaemic variations, but complementary to the measurement of blood glucose or subcutaneous glucose concentrations, it allows both the clinician and the patient to have an appreciation of the glycaemic balance of the last weeks. In this way, anti-diabetic treatment can be adjusted if necessary to achieve the desired goal and hopefully delay or prevent diabetes-related micro- and macroangiopathic complications. Some conditions can alter the glycation of haemoglobin. In this case, the HbA1c level becomes difficult to interpret. Hereditary spherocytosis may be revealed by a dissociation between low HbA1c level and high blood glucose levels. A family history, Coombs-negative haemolytic anaemia, or a finding of spherocytes in the blood smear is suggestive of hereditary spherocytosis. Fructosamine testing may be an alternative. This article will present a patient with hereditary spherocytosis in whom the HbA1c level was not interpretable when compared to the elevated blood glucose measurements.

: L'hémoglobine glyquée (HbA1c) est une valeur biologique utilisée dans le suivi des patients diabétiques. Indépendante de la variation glycémique nycthémérale, mais complémentaire à la mesure de la glycémie ou de la concentration sous-cutanée de glucose, elle permet tant au clinicien qu'au patient d'avoir une appréciation de l'équilibre glycémique des dernières semaines. De cette manière, le traitement anti-diabétique peut être éventuellement adapté pour atteindre l'objectif escompté et espérer retarder, voire prévenir, les complications micro- et macroangiopathiques liées au diabète. Certaines affections peuvent altérer la glycation de l'hémoglobine. Dans ce cas, le taux d'HbA1C devient difficile à interpréter. La sphérocytose héréditaire peut se révéler par un tableau de dissociation entre un taux bas d'HbA1C et des valeurs élevées de glycémie. Des antécédents familiaux, une anémie hémolytique à Coombs négatif, ou une observation de sphérocytes dans le frottis sanguin sont en faveur d'un diagnostic de sphérocytose héréditaire. Le dosage de la fructosamine peut être une alternative. Le présent article abordera le cas d'un patient atteint d'une sphérocytose héréditaire chez qui le taux d'HbA1c n'était pas interprétable en regard des contrôles glycémiques.

[Multidisciplinary management of the pediatric sickle cell patient in 2019]. / Prise en charge multidisciplinaire du patient drépanocytaire pédiatrique en 2019.

Sickle cell disease is a common genetic disorder that affects haemoglobin. It is manifested by haemolytic anaemia and vaso-occlusive crisis. It can affect all organs and its evolution is unpredictable. The multidisciplinary management of pediatric patients who suffer from it is essential to adapt their treatment and optimize their evolution. One of the major challenges is to succeed the transition to adult medicine. New therapeutic perspectives are in development and look promising.

La drépanocytose est une maladie génétique fréquente qui affecte l'hémoglobine. Elle se manifeste par une anémie hémolytique et des phénomènes vaso-occlusifs. Elle peut toucher tous les organes et son évolution est imprévisible. La prise en charge multidisciplinaire des patients pédiatriques qui en souffrent est essentielle pour optimaliser leur évolution et adapter leur traitement. Un des défis majeurs est de réussir la transition vers la médecine adulte. De nouvelles perspectives thérapeutiques sont en développement.

Sickle cell disease from Africa to Belgium, from neonatal screening to clinical management.

AIM: To describe the severity of sickle cell disease (SCD) in newborns in Belgium and evaluate the impact of neonatal screening (NS) on clinical outcome. METHODS: Universal NS of umbilical cord blood for hemoglobinopathy was progressively deployed in Brussels and Liège starting in 1994. No particular population was targeted. Samples were analyzed initially using the isoelectric focusing technique and since 2008 the capillary electrophoresis technique. If a hemoglobin variant was suspected, further analysis was carried out using high performance liquid chromatography. Children presenting major hemoglobinopathy, especially SCD, were referred to a specialized centre for comprehensive management. Preventive measures included antipneumococcal prophylaxis immunization/antibiotic therapy, parental training to recognize severe anemia and splenic sequestration, and transcranial ultrasound recording for early detection of intracranial stenosis. A database was set up in Belgium to collect clinical and laboratory data including parental phenotype, diagnostic technique (neonatal screening or not), major clinical events (episodes of dactylitis, acute chest syndrome, severe anemia, infection, etc), number and duration of required hospitalizations, and treatment used. RESULTS: Screening of 222352 newborns in maternity units in Brussels led to diagnosis of SCD in 145 patients, Adequate data for analysis of clinical outcome was available for 96 of these children born before 2007. Median age in the study group was 4.2 years and the total duration of follow-up was 510 years. Most cases occurred in families from the Democratic Republic of Congo. (64/96 patients; 66.7%) and involved homozygous hemoglobin S disease (80/96 patients; 83.3%). Twenty-seven percent of patients (26/96) presented no severe clinical events during the study (17 SS, median age 2,1 years (0-13.1 years). Conversely 33% presented an episode of dactylitis and 47.9% (46/96) presented recurrent vasoocclusive crises. Severe anemia was observed in 39.6% (38/96) of cases. Six patients (6.3%) developed septicemia despite prophylactic antibiotic therapy and anti-pneumococcal immunization using heptavalent conjugate vaccine and polysaccharide vaccine, No penicillin-resistant strains were observed. The incidence of stroke was 2.1% (3/96). Two patients presenting homozygous hemoglobin S disease died due to septicemia due to non-compliance with antibiotic therapy in one case and severe anemia in one case. All episodes of septicemia and both deaths occurred at the beginning of the NS program. Hydroxyurea therapy was used in 30 patients (31.2%) including 7 in whom transcranial Doppler depicted blood flow abnormalities and 8 in whom allogeneic bone marrow transplantation was performed. CONCLUSIONS: Sickle cell disease is still associated with high morbidity and mortality but clinical care has improved and no death has occurred in the last 10 years. NS is an effective tool for early detection and management of SCD. Neonates with SCD diagnosed by NS in Belgium presented severe manifestations, but clinical outcomes were improved by comprehensive management.

Neonatal haemoglobinopathy screening in Belgium.

BACKGROUND: A neonatal haemoglobinopathy screening programme was implemented in Brussels more than a decade ago and in Liège 5 years ago; the programme was adapted to the local situation. METHODS: Neonatal screening for haemoglobinopathies was universal, performed using liquid cord blood and an isoelectric focusing technique. All samples with abnormalities underwent confirmatory testing. Major and minor haemoglobinopathies were reported. Affected children were referred to a specialist centre. A central database in which all screening results were stored was available and accessible to local care workers. A central clinical database to monitor follow-up is under construction. RESULTS: A total of 191,783 newborns were screened. One hundred and twenty-three (1:1559) newborns were diagnosed with sickle cell disease, seven (1:27,398) with beta thalassaemia major, five (1:38,357) with haemoglobin H disease, and seven (1:27,398) with haemoglobin C disease. All major haemoglobinopathies were confirmed, and follow-up of the infants was undertaken except for three infants who did not attend the first medical consultation despite all efforts. CONCLUSIONS: The universal neonatal screening programme was effective because no case of major haemoglobinopathy was identified after the neonatal period. The affected children received dedicated medical care from birth. The screening programme, and specifically the reporting of minor haemoglobinopathies, has been an excellent health education tool in Belgium for more than 12 years.

[Infantile pyknocytosis: a rare form of neonatal hemolytic anemia. 5 case-studies]. / La pyknocytose infantile : une anémie néonatale mal connue à propos de 5cas.

UNLABELLED: Infantile pyknocytosis (IP) is a rare hematological entity of newborns. It is a form of hemolytic anemia with unusual red cell morphology: the red blood cells are distorted, irregular, and small with many projections. Spontaneous resolution usually occurs by 4-6months of age. OBSERVATION: We describe the clinical features and biological parameters of 5 cases of IP. The first symptoms were always early jaundice, which required phototherapy. Anemia was severe in all babies and red blood cell transfusion was needed. CONCLUSION: IP is a rare cause of neonatal anemia whose diagnosis is based on a careful peripheral blood smear examination. In our study, anemia was severe and required red blood cell transfusion. Ethnic specificity and familial occurrence are reported in our experience.