Haemophilia B in Algeria: Realities and therapeutic perspectives.

INTRODUCTION: Haemophilia B is a debilitating hereditary coagulation disorder characterized by prolonged or spontaneous episodes of bleeding caused by a deficiency of endogenous factor IX. In Algeria, even though many studies are being carried out to evaluate the prevalence and management of haemophilia B, there is a paucity of locally published literature that can be used to understand the most recent information on the disease's epidemiology, diagnostic techniques and treatment options. AIMS: The aim of this manuscript is to raise awareness among patients and family clinicians about current practices, recent developments and unmet needs related to haemophilia B in Algeria. METHODS: A comprehensive literature search was conducted through online scientific databases to review publications regarding haemophilia B in Algeria. Exclusions of the review include case studies, interregional comparisons, abstract-only papers and studies outside the range of 2012-2022. RESULTS: The findings discussed relate to the epidemiology of haemophilia B in Algeria, the clinical diagnostic process, disease symptoms, the benefits of molecular and genetic testing, advancements in prophylactic care, as well as unmet needs hindering the progression of optimal haemophilia B management. CONCLUSION: These findings are crucial to encourage the maintenance of national registries with updated epidemiological data, facilitate early and timely detection of disease symptoms, improve the provision of diagnostic facilities and enhance the overall treatment landscape for better patient outcomes.

Profil épidémiologique des thrombopathies constitutionnelles dans l'ouest algérien / Epidemiological profile of constitutional thrombopathies in western Algeria

Introduction. Comme pour toutes les maladies rares ou maladies orphelines, l'étude des thrombopathies devrait être multicentrique pour recenser le maximum ou tous les patients dans une région ou dans le pays concerné. Notre étude a pour objectif d'évaluer la prévalence des thrombopathies constitutionnelles dans l'Ouest Algérien, et décrire ainsi les caractéristiques épidémiologiques de notre population. Patients et méthodes. Il s'agit d'une étude descriptive régionale du profil épidémiologique de 61 patients de l'Ouest Algérien présentant une thrombopathie constitutionnelle. Résultats. Dans notre étude a trouvé 34 thrombasthénies de Glanzmann (TG), 18thrombopathies de Jean Bernard Soulier (JBS), 08thrombopathies de May-Hegglin (MH) et un syndrome de Scott avec une prévalence globale de 1,8/1 million habitants. Conclusion. Notre travail nous a permis d'avoir un contexte global sur les thrombopathies constitutionnelles qui serait sans doute la base d'autres études de caractère clinique, biologique ou même moléculaire surtout en matière de recrutement de patients.

Introduction. As with all rare or orphan diseases, the study of inherited platelet disorders should be multicentric to identify as many or as few patients as possible in a given region or country. The aim of our study is to evaluate the prevalence of inherited platelet disorders in Western Algeria, and thus describe the epidemiological characteristics of our population. Patients and methods. This is a regional descriptive study of the epidemiological profile of 61 patients in Western Algeria with inherited platelet disorders. Results. In our study we found 34 Glanzmann thrombasthenias (TG), 18 Jean Bernard Soulier thrombopathies (JBS), 08 May-Hegglin thrombopathies (MH) and one Scott syndrome with an overall prevalence of 1.8/1 million inhabitants. Conclusion. Our work has allowed us to have a global context on inherited platelet disorders which would undoubtedly be the basis of other studies of clinical, biological or even molecular character especially in terms of patient recruitment.

Home treatment of haemarthrosis with recombinant activated factor VII in patients with haemophilia A or B and inhibitors: experience from developing countries.

Home therapy for uncomplicated mild/moderate bleeding can decrease healthcare burden, promote self-esteem, reduce complications, and provide near-normal quality of life. To evaluate recombinant activated factor VII (rFVIIa) as home therapy for joint bleeds in Algeria, Morocco, Oman, Saudi Arabia, and United Arab Emirates. Twenty-seven patients aged more than 2 years with congenital haemophilia and inhibitors were monitored for up to 8 months after a first haemarthrosis episode treated with rFVIIa. Assessments were made by patients/caregivers with a standardized diary. The main measures included home-managed bleeds, haemostasis, and pain relief within 9 h after first injection. Additional analyses included convenience, time to pain resolution, and doses given within 48 h. Of 132 bleeds, 84 (63.6%) were managed at home. Of these, successful haemostasis (partial or complete) was achieved at 9 h in 87.8%, with pain relief for 84.0%. For all treatment settings, successful haemostasis at 9 h was achieved for 86.3% of bleeds, with pain relief achieved for 74.8% of bleeds. Higher initial dosing was associated with fewer injections. Median time to complete haemostasis was 48 h (spontaneous bleeds) and 24 h (traumatic bleeds). Median time to complete pain relief was 24 h for both bleed types. Satisfaction with treatment was high. No safety concerns were reported. Results from this observational study agree with previous data on the safety and efficacy of home treatment with rFVIIa and will help to increase awareness and aggregate experience, fostering confidence in home management of haemophilia patients with inhibitors in developing countries.

Clinical association of baseline levels of conjugated dienes in low-density lipoprotein and nitric oxide with aggressive B-cell non-Hodgkin lymphoma and their relationship with immunoglobulins and Th1-to-Th2 ratio.

OBJECTIVE: The aim of this study was to highlight the clinical association of baseline levels of conjugated dienes in low-density lipoprotein (LDL-BCD) and nitric oxide (NO) with immunoglobulins (Igs) and T helper (Th)1/Th2 ratio in patients with newly diagnosed B-cell non-Hodgkin lymphoma (NHL). PATIENTS AND METHODS: Thirty-two newly diagnosed patients with aggressive B-cell NHL and 25 age-, sex-, and body-mass-index-matched healthy controls were randomly selected for a cross-sectional case-control study conducted at the Hematology Department of Tlemcen Medical Centre University (northwest of Algeria). RESULTS: Circulating levels of LDL-BCD and NO and those of IgA and IgM were significantly higher in patients than in controls. The levels of Th1/Th2 ratio and plasma total antioxidant capacity were significantly lower in patients compared with controls, while malondialdehyde and protein carbonyl levels were significantly higher in patients. B-cell NHL was significantly associated with high levels of LDL-BCD from 25th to 75th percentile (25th percentile: relative risk [RR] =2.26, 95% confidence interval [CI] 1.42-3.59, P=0.014; 50th percentile: RR =2.84, 95% CI 1.72-4.68, P<0.001; 75th percentile: RR =5.43, 95% CI 2.58-11.42, P<0.001). Similarly, the disease was significantly associated with high levels of NO production from 25th to 75th percentile (25th percentile: RR =2.07, 95% CI 1.25-3.44, P=0.024; 50th percentile: RR =2.78, 95% CI 1.63-4.72, P<0.001; 75th percentile: RR =4.68, 95% CI 2.21-9.91, P<0.001). Moreover, LDL-BCD levels were positively and significantly correlated with interferon (IFN)-γ, whereas NO levels were inversely and significantly correlated with IFN-γ and Th1/Th2 ratio. CONCLUSION: LDL-BCD and NO production seem to be associated with aggressive B-cell NHL and alteration of Th1/Th2 ratio. Our results have to be examined using ex vivo mechanistic studies leading to further investigations of these parameters, with an interest in the link between Epstein-Barr virus infection and NO and immunoglobulins.

Relationship between NADPH and Th1/Th2 ratio in patients with non-Hodgkin lymphoma who have been exposed to pesticides.

The effect of pesticides on nicotinamide adenine dinucleotide phosphate hydrogen (NADPH), including its level and relationship with the T helper 1 (Th1)/Th2 ratio, in patients suffering from non-Hodgkin lymphoma (NHL) was investigated. One hundred newly diagnosed patients with aggressive NHL (53 men, 47 women) and 40 healthy age-, sex-, and body mass index-matched controls (23 men, 17 women), exposed or not to pesticides, were recruited for a cross-sectional study conducted at the Clinical Hematology Departments of Tlemcen and Sidi Bel-Abbès University Medical Centers in the northwest of Algeria. NADPH levels were significantly increased in patients compared with controls; and in exposed patients compared with those not exposed, and controls (one-way analysis of variance; P=0.000). Albumin, glutathione peroxidase, superoxide dismutase, catalase activity, and oxygen radical absorbance capacity levels were significantly decreased in patients compared with in the control group. Oxygen radical absorbance capacity levels were significantly decreased in exposed patients compared with in unexposed patients; however, malondialdehyde levels were significantly increased in exposed patients when compared with controls and unexposed patients. Protein carbonyl and xanthine oxidase levels were significantly increased in exposed patients compared with controls; meanwhile, there were no significant differences between the two patient groups or between unexposed patients and controls. The Th1/Th2 ratio was significantly decreased in patients when compared with controls; the neutrophil-to-lymphocyte ratio was significantly increased (for both comparisons, P<0.001). In addition, NADPH was strongly associated with NHL (Mantel-Haenszel common odds ratio estimate =5.55; 95% confidence interval, 2.22-13.88; P=0.000). Moreover, NADPH levels were significantly negatively related to the Th1/Th2 ratio, either in exposed patients or in unexposed patients (respectively, r=-0.498 [P=0.004] and r=-0.327 [P=0.006]). In conclusion, pesticide exposure was strongly associated with NADPH alteration in NHL. The relationship between NADPH and Th1/Th2 ratio should focus on new therapeutic strategies for the disease.

Gemcitabine and treatment of diffuse large B-cell lymphoma in relapsed or refractory elderly patients: a prospective randomized trial in Algeria.

CONTEXT: Support for non-Hodgkin's lymphoma (NHL) with large cells that is refractory or relapsed after first-line chemotherapy poses a greater therapeutic problem with bone marrow transplant therapy or when old age is a contra-indication for high-dose chemotherapy, especially among developing countries such as Algeria. AIM: To show that the regimen, including gemcitabine, could be more effective in treating elderly patients with diffuse large B-cell lymphoma (DLBCL) in relapse / refractory, without complete remission, when compared with the ESHAP (etoposide, cisplatine, solumedrol, aracytine) regimen. MATERIALS AND METHODS: Ninety-six patients in the age group of 60-70 years were volunteers for a prospective randomized single-blind study, carried out for three years. Patients were divided into two groups by the drawing of lots. The first group (GA, n = 48, relapse; n = 27 [56.3%], refractory; n = 21 [43.7%]) received treatment with ESHAP protocol and the second one (GB, n = 48, relapse; n = 28 [58%], refractory; n = 20 [42%]) with GPD (gemcitabine, dexamethasone, cisplatine) protocol. RESULTS: The overall response rates and mean survival at three years were significantly higher among patients subjected to GPD treatment compared with those subjected to ESHAP treatment (63% vs. 55%, P = 0.01 and 20.5% [95% CI 16.5-24.5] vs. 11.8% [8.9-14.6], respectively). Additionally, three-year progression-free and event-free survival rates were 20.5% (16.3-24) and 19.7% (15.9-23.5), respectively, for the GPD regimen and 10.9% (8.2-13.7) and 11.1% (95% CI 8.5-13.7), respectively, for the ESHAP regimen. Moreover, the GPD regimen was associated with improving overall survival (RR=2.02, 95% CI 1.59-2.56; P = 0.000), event-free survival (2.03, 1.64-2.52; P < 0.001) and progression-free survival (1.86, 1.46-2.37; P < 0.001). CONCLUSION: In cases of contra-indication for high-dose chemotherapy for elderly patients with DLBCL, without complete remission, the Gemcitabine-based therapy protocol represents a more effective and less toxic than that of ESHAP.