Sickle cell disease
BioMG follows French guidelines. Adapt it to the guidelines and the tests available where you practise.
Child and adolescent: annual tests
Laboratory tests
- FBC with reticulocyte count
- Fetal haemoglobin assay
- Serum ferritin
- Total iron-binding capacity
- Serum calcium
- Serum phosphate
- Serum electrolytes
- AST, ALT, GGT, bilirubin (total and conjugated)
- Parvovirus B19 serology
- Anti-HBs antibodies
- irregular antibody screenHistory of transfusion. Serology is no longer needed once immunity has been acquired.
- HIV serologyif neededChild transfused in a country with a low level of transfusion safety [3].
- hepatitis C serologyif neededChild transfused in a country with a low level of transfusion safety [3].
- CRP (to interpret ferritin)
- Alkaline phosphatase
- PT
- LDH
- 25-hydroxyvitamin D
- Hepatitis B serologyif neededChild transfused in a country with a low level of transfusion safety [3].
- Hepatitis A serology (IgG)if neededWith a view to vaccination if travelling [3].
Urine tests
- Microalbuminuria
Also consider
- Relatives or pregnancy plan? For screening of relatives and genetic counselling of the couple, see the page “Familial genetic screening”.
Adult: annual tests
Laboratory tests
- FBC with reticulocyte count
- Irregular antibody screen
- Serum electrolytes
- Serum creatinine with eGFR
- AST, ALT, GGT, alkaline phosphatase, total and conjugated bilirubin
- LDH
- Serum ferritinif neededIron studies case by case [8].
- 25-hydroxyvitamin D (if never measured or known deficiency; not reimbursed in France)if neededThe British standards (2018) measure it at least once a year in all adults, and the German DGHO (2024) once a year [7,9]. The French PNDS (national protocol for diagnosis and care) recommends it in the initial work-up, reports profound deficiency in more than two thirds of adults and considers that a follow-up measurement can help adjust doses [8]. This indication is not listed in the French laboratory fee schedule (NABM) [10].
- Serum folate (if worsening anaemia or macrocytosis)if needednon-French guidelineThe British standards (2018) have it measured in worsening anaemia or macrocytosis [9]. The French PNDS counts folate deficiency among the causes of worsening anaemia with a low reticulocyte count, while providing for routine supplementation [8].
Urine tests
Do not order
- Haptoglobin: of no value, it is always very low in sickle cell disease [8].
Sources (10)
- Filière MCGRE. Synthèse à destination du médecin traitant extraite du PNDS « Syndromes drépanocytaires majeurs de l’enfant et de l’adolescent ». Mars 2024.
- Walter O, Cougoul P, Lapeyre-Mestre M, Kelly-Irving M, Lafaurie M, Moulis G. Socioeconomic deprivation, disease complications and access to preventive care in sickle cell disease in mainland France. Ann Hematol. 2026;105:419.
- Filière de santé maladies rares MCGRE (maladies constitutionnelles rares du globule rouge et de l’érythropoïèse). Protocole national de diagnostic et de soins (PNDS) : syndromes drépanocytaires majeurs de l’enfant et de l’adolescent. Mars 2024 (publié sur le site de la HAS, mai 2024 ; non validé par la HAS).
- Dick M, Rees D, et al. Sickle Cell Disease in Childhood: Standards and Recommendations for Clinical Care. 3e édition. Sickle Cell Society, novembre 2019.
- National Heart, Lung, and Blood Institute (États-Unis). Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014. Chapitre 2, Health Maintenance.
- Liem RI, Lanzkron S, Coates TD, DeCastro L, et al. American Society of Hematology 2019 guidelines for sickle cell disease: cardiopulmonary and kidney disease. Blood Adv. 2019;3(23):3867-3897.
- Hoferer A, Alashkar F, Cario H, Corbacioglu S, le Coutre P, Distelmaier L, Hegemann I, Kager L, Lobitz S, Schmugge Liner M, Sillaber C, Wörmann B, Dickerhoff R. Sichelzellkrankheiten. Leitlinie Onkopedia (DGHO), octobre 2024.
- Haute Autorité de santé. Protocole national de diagnostic et de soins (PNDS) ALD n° 10 : syndromes drépanocytaires majeurs de l’adulte. Janvier 2010 (paragraphe hydroxycarbamide actualisé en 2013).
- Sickle Cell Society (Royaume-Uni). Standards for the Clinical Care of Adults with Sickle Cell Disease in the UK. 2e édition, 2018.
- Assurance maladie. Nomenclature des actes de biologie médicale (NABM), version 105 : acte 1139 (25-OH-vitamine D) et dispositions générales (forfaits, complément à la cotation minimale).