Clinical and Laboratory Features of Sickle Cell Disease S/D Punjab: Impact of HbF and Hydroxyurea.

IF 2 4区 医学 Q3 HEMATOLOGY Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2024-05-01 eCollection Date: 2024-01-01 DOI:10.4084/MJHID.2024.046
S Alkindi, I B M Al-Busaidi, A V Pathare
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Abstract

Background: Sickle cell disease (SCD) is a major public health issue worldwide with high morbidity and mortality. SCD SD Punjab is the third most common genotype of SCD in Oman and is associated with several serious complications. The aim of the study is to establish the clinical and laboratory features of SCD patients with SD double heterozygotes and study the impact of haemoglobin F, hydroxyurea, and other modulators on the disease severity.

Methods: We analysed the electronic medical records of 52 consecutive SCD patients who were diagnosed as double heterozygote SD Punjab between 2006 and 2022. The study was approved by the local medical research and ethics committee. The data captured included SCD-related complications and current clinical and laboratory indices. Data from other studies on other SCD genotypes were used as historical controls.

Results: 52 patients (31 males, 21 females) who formed this cohort had a median age of 32 years with an interquartile range (IQR) of 21-39.8 years. 37(71.2%) had <3 VOC per year, whereas 15 (28.8%) patients had ≥3 vasooclusive (VOC) episodes per year. SCD-related complications included Acute Chest Syndrome (ACS) (48%), Gall stones (26.9%), Avascular necrosis (AVN) (28.8%), Stroke (13.5%) and splenic sequestration (7.7%), whereas 5 (9.6%) patients of this cohort died. Surgical and Autosplenectomy were seen in 18 (34.6%). These findings were similar to other SCD genotypes in this community. 19 (57.6%) were taking Hydroxyurea (HU) amongst the 33 patients who were prescribed HU. Haematological parameters showed a median (IQR) Hb (g/dl), MCV (fl), Retic count (%), WBC count(×109/L) and Platelet count(×109/L) of 9.7 (8.5-11.3), 74.9 (68.4-79.8), 4 (3.2-5.7), 9.9 (8.1-12.6) and 309 (239-428) respectively. The haemoglobin electrophoresis showed an elevated HbF, whereas serum bilirubin and LDH were elevated amongst the biochemical parameters. The use of hydroxyurea showed no impact on VOC, ACS, AVN, Stroke or mortality.

Conclusion: SD Punjab is the third most common SCD genotype in Oman and was associated with recurrent VOC, ACS, AVN, and gall stones comparable to other SCD genotypes. Patients with > 3 VOC/year had significantly increased incidence of Stroke, AVN, and gallstones. However, HU was not associated with improved prognosis and better survival in this cohort of patients.

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旁遮普镰状细胞病 S/D 的临床和实验室特征:HbF 和羟基脲的影响。
背景:镰状细胞病(SCD)是全球主要的公共卫生问题,发病率和死亡率都很高。SCD SD旁遮普型是阿曼第三种最常见的SCD基因型,与多种严重并发症有关。本研究旨在确定 SD 双杂合子 SCD 患者的临床和实验室特征,并研究血红蛋白 F、羟基脲和其他调节剂对疾病严重程度的影响:我们分析了 2006 年至 2022 年间连续诊断为 SD 双杂合子旁遮普省 52 例 SCD 患者的电子病历。该研究获得了当地医学研究和伦理委员会的批准。采集的数据包括与 SCD 相关的并发症以及当前的临床和实验室指标。其他关于其他 SCD 基因型的研究数据被用作历史对照:组成该队列的 52 名患者(31 名男性,21 名女性)的中位年龄为 32 岁,四分位距(IQR)为 21-39.8 岁。37例(71.2%)患者的血小板计数(×109/L)分别为9.7(8.5-11.3)、74.9(68.4-79.8)、4(3.2-5.7)、9.9(8.1-12.6)和309(239-428)。血红蛋白电泳显示 HbF 升高,而生化指标中血清胆红素和 LDH 升高。使用羟基脲对 VOC、ACS、AVN、中风或死亡率没有影响:SD Punjab 是阿曼第三大最常见的 SCD 基因型,与其他 SCD 基因型相比,它与复发性 VOC、ACS、AVN 和胆结石有关。VOC > 3 次/年的患者中风、AVN 和胆结石的发病率明显增加。然而,在这组患者中,HU 与预后改善和生存率提高无关。
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来源期刊
CiteScore
4.20
自引率
6.20%
发文量
113
审稿时长
12 weeks
期刊介绍: Reciprocal interdependence between infectious and hematologic diseases (malignant and non-malignant) is well known. This relationship is particularly evident in Mediterranean countries. Parasitosis as Malaria, Leishmaniosis, B Hookworms, Teniasis, very common in the southeast Mediterranean area, infect about a billion people and manifest prevalently with anemia so that they are usually diagnosed mostly by experienced hematologist on blood or bone marrow smear. On the other hand, infections are also a significant problem in patients affected by hematological malignancies. The blood is the primary vector of HIV infection, which otherwise manifest with symptoms related to a reduction in T lymphocytes. In turn, infections can favor the insurgency of hematological malignancies. The causative relationship between Epstein-Barr virus infection, Helicobacter pylori, hepatitis C virus, HIV and lymphoproliferative diseases is well known.
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