BACKGROUNDβ-thalassemia intermedia(βTI)is one of the hemoglobinopathies.It constitutes 10%ofβ-thalassemia cases yet being associated with a better quality of life thanβ-thalassemia major(βTM).CASE SUMMARY We rece...BACKGROUNDβ-thalassemia intermedia(βTI)is one of the hemoglobinopathies.It constitutes 10%ofβ-thalassemia cases yet being associated with a better quality of life thanβ-thalassemia major(βTM).CASE SUMMARY We recently reported the first case of acute lymphoblastic leukemia(ALL)from Egypt in a child withβTM,and we herein report the first case of ALL from Egypt in a child withβTI.In this report,literature was reviewed for cases of malignancies associated withβTI and the possible factors underling the relationship between the two entities.CONCLUSION We stress that physicians should have a high index of suspicion of malignancies in thalassemia patients if they present with any suggestive symptoms or signs.展开更多
Recurrent priapism is a rare, serious and difficult to treat complication of some hematological disorders, for which no standard therapy exists. This study reports a case of a 42-year-old man with thalassemia intermed...Recurrent priapism is a rare, serious and difficult to treat complication of some hematological disorders, for which no standard therapy exists. This study reports a case of a 42-year-old man with thalassemia intermedia complicated by recurrent episodes of priapism. To prevent priapism recurrences, a trial of PDE5is use was initiated. One day after initiation of a PDE5i (25 mg sildenafil repeated every 8 hours), priapism was improved. For 3 weeks, the patient reported improvement, without experiencing any episodes of priapism and a normal physiologic erectile function. Four weeks after treatment he experienced priapism reoccurrence and doubling of the Sildenafil was not effective. Gonadotropin-releasing hormone agonist initiated and one week after initiatin of new drug he improved. He was free of priapism episodes for more than 2 years afterward. PDE5 deregulation seems to be an underling pathologic mechanism of recurrent priapism at least in thalassemia intermedia patients. It appears that PDE5is may have a role in the management of such patients and further testing in clinical trials is needed.展开更多
Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all amon...Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.展开更多
Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematolog...Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.展开更多
α地中海贫血（地贫）是α珠蛋白合成障碍的一种遗传性慢性溶血性贫血,在广西、广东、贵州等地区发病率高。中间型α地贫也称为血红蛋白H病（hemoglobin H disease,Hb H）,与其他遗传病一样,多于婴幼儿期被诊断,少数可至中年后贫血加重...α地中海贫血（地贫）是α珠蛋白合成障碍的一种遗传性慢性溶血性贫血,在广西、广东、贵州等地区发病率高。中间型α地贫也称为血红蛋白H病（hemoglobin H disease,Hb H）,与其他遗传病一样,多于婴幼儿期被诊断,少数可至中年后贫血加重后被诊断,老年初诊者非常少见。现对6例老年Hb H患者诊疗过程报道如下。展开更多
文摘BACKGROUNDβ-thalassemia intermedia(βTI)is one of the hemoglobinopathies.It constitutes 10%ofβ-thalassemia cases yet being associated with a better quality of life thanβ-thalassemia major(βTM).CASE SUMMARY We recently reported the first case of acute lymphoblastic leukemia(ALL)from Egypt in a child withβTM,and we herein report the first case of ALL from Egypt in a child withβTI.In this report,literature was reviewed for cases of malignancies associated withβTI and the possible factors underling the relationship between the two entities.CONCLUSION We stress that physicians should have a high index of suspicion of malignancies in thalassemia patients if they present with any suggestive symptoms or signs.
文摘Recurrent priapism is a rare, serious and difficult to treat complication of some hematological disorders, for which no standard therapy exists. This study reports a case of a 42-year-old man with thalassemia intermedia complicated by recurrent episodes of priapism. To prevent priapism recurrences, a trial of PDE5is use was initiated. One day after initiation of a PDE5i (25 mg sildenafil repeated every 8 hours), priapism was improved. For 3 weeks, the patient reported improvement, without experiencing any episodes of priapism and a normal physiologic erectile function. Four weeks after treatment he experienced priapism reoccurrence and doubling of the Sildenafil was not effective. Gonadotropin-releasing hormone agonist initiated and one week after initiatin of new drug he improved. He was free of priapism episodes for more than 2 years afterward. PDE5 deregulation seems to be an underling pathologic mechanism of recurrent priapism at least in thalassemia intermedia patients. It appears that PDE5is may have a role in the management of such patients and further testing in clinical trials is needed.
文摘Haemoglobinopathies are very serious clinical conditions caused by genetic mutations. They belong to autosomal recessive disorders and the most frequent genetic inherited diseases seen, specifically and above all among Mediterranean countries. Thalassaemia syndromes (included Beta Thalassaemia and Sickle Cell Disease) have been the first diagnosed diseases since in intrauterine life using reccombinant DNA techniques. So, the better understanding of their pathophysiology has given a spectacolar improvement and a considerable impact on these conditional managements. Every year there are nearly 300,000 children born with haemoglobinopathies globally, and there are 60,000 - 70,000 children with Beta Thalassemia among them. Nowadays in Albania like everywhere, there is a significant increase of survival in these patients. As a result of life longevity and improvement of patients life quality, we can see that these patients may suffer from other concomitant illnesses. In our country, there are registered approximately 500 patients with haemoglobinopathies. We studied 50 pediatric patients at random ranging from age 2 until 18 years old. We excluded other pathologies among them. We found high values of biochemical indicators in blood (Ca 15-3 was found elevated in 75% of our patients, Lactate Dehydrogenases was found elevated in 70% of cases, Indirect Bilirubin was found elevated in 66% of cases). All three parameters are indicators of hemolysis. We found a correlation between high values of Ca 15-3 marker and high levels of LDH, Indirect Bilirubin and low level of hemoglobin (p < 0.05). Ca 15-3 is much elevated among patients non regularly transfused and in those who take an unsufficient amount of blood. Continuous monitoring of these biochemical parameters is going to help in the more effective follow up of patients with haemoglobinopathies.
文摘Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.
文摘α地中海贫血（地贫）是α珠蛋白合成障碍的一种遗传性慢性溶血性贫血,在广西、广东、贵州等地区发病率高。中间型α地贫也称为血红蛋白H病（hemoglobin H disease,Hb H）,与其他遗传病一样,多于婴幼儿期被诊断,少数可至中年后贫血加重后被诊断,老年初诊者非常少见。现对6例老年Hb H患者诊疗过程报道如下。
