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Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■镰状细胞病（SCD）是全球范围内的主要公共卫生问题，发病率和死亡率都很高。SCDSDPunjab是阿曼第三常见的SCD基因型，与几种严重并发症有关。本研究的目的是建立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,以及其他疾病严重程度的调节剂。
■我们分析了2006年至2022年间被诊断为双杂合子SDPunjab的52例连续SCD患者的电子病历。该研究得到了当地医学研究和伦理委员会的批准。收集的数据包括SCD相关并发症以及当前的临床和实验室指标。来自其他SCD基因型的其他研究的数据被用作历史对照。
■52名患者（31名男性，21名女性）组成该队列的中位年龄为32岁，四分位数间距（IQR）为21-39.8岁。37(71.2%)的VOC每年<3，而15例(28.8%)患者每年发生≥3次血管闭塞(VOC)发作.SCD相关并发症包括急性胸部综合征（ACS）（48%），胆结石(26.9%),血管坏死（AVN）（28.8%），中风（13.5％）和脾隔离症（7.7％），而该队列中有5例（9.6％）患者死亡。手术和自体脾切除术18例(34.6%)。这些发现与该社区中的其他SCD基因型相似。在服用HU的33例患者中，有19例（57.6％）服用了羟基脲（HU）。血液学参数显示中位数（IQR）Hb（g/dl），MCV(fl),Retic计数(%),白细胞计数（×109/L）和血小板计数（×109/L）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,而血清胆红素和LDH在生化指标中升高。羟基脲的使用对VOC没有影响，ACS,AVN,中风或死亡率。
■SDPunjab是阿曼第三常见的SCD基因型，与复发性VOC有关，ACS,AVN,和胆结石与其他SCD基因型相当。>3VOC/年的患者卒中发生率明显增加，AVN,和胆结石。然而,在该队列患者中，HU与预后改善和生存改善无关。
■我们分析了2006年至2022年间被诊断为双杂合子SDPunjab的52例连续SCD患者的电子病历。该研究得到了当地医学研究和伦理委员会的批准。收集的数据包括SCD相关并发症以及当前的临床和实验室指标。来自其他SCD基因型的其他研究的数据被用作历史对照。
■52名患者（31名男性，21名女性）组成该队列的中位年龄为32岁，四分位数间距（IQR）为21-39.8岁。37(71.2%)的VOC每年<3，而15例(28.8%)患者每年发生≥3次血管闭塞(VOC)发作.SCD相关并发症包括急性胸部综合征（ACS）（48%），胆结石(26.9%),血管坏死（AVN）（28.8%），中风（13.5％）和脾隔离症（7.7％），而该队列中有5例（9.6％）患者死亡。手术和自体脾切除术18例(34.6%)。这些发现与该社区中的其他SCD基因型相似。在服用HU的33例患者中，有19例（57.6％）服用了羟基脲（HU）。血液学参数显示中位数（IQR）Hb（g/dl），MCV(fl),Retic计数(%),白细胞计数（×109/L）和血小板计数（×109/L）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,而血清胆红素和LDH在生化指标中升高。羟基脲的使用对VOC没有影响，ACS,AVN,中风或死亡率。
■SDPunjab是阿曼第三常见的SCD基因型，与复发性VOC有关，ACS,AVN,和胆结石与其他SCD基因型相当。>3VOC/年的患者卒中发生率明显增加，AVN,和胆结石。然而,在该队列患者中，HU与预后改善和生存改善无关。
