Active clinical trials for "Hemoglobinopathies"

Fludarabine and clofarabine are chemotherapy drugs used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of clofarabine and fludarabine in their bodies and if drug levels are related to whether or not a child experiences severe side-effects during their bone marrow transplant. The hypothesis is that clinical and individual factors cause changes in clofarabine and fludarabine drug levels in pediatric bone marrow transplant patients and that high levels may cause severe side-effects.

This study will examine blood for factors that may cause or prevent diseases involving iron or red blood cells. Iron is an important nutrient for human health that is needed to produce red blood cells. Red blood cells carry oxygen to body tissues. A better understanding of iron and red blood cells may help lead to better treatment of several diseases including anemia. Patients of all ages with red cell abnormalities in the following categories may be eligible for this study: Diseases with deficiency, overload or maldistribution of iron Known red blood cell diseases, such as anemias and hemoglobinopathies Red blood cell diseases of unknown cause, such as hemolysis of unknown cause Red blood cell abnormalities with no overt clinical disease, such as hereditary persistence of fetal hemoglobin Participants undergo the following procedures: Medical history Physical examination Standard medical tests related to the individual's iron or red blood cell condition Blood draw for the following purposes: Testing for syphilis and for the hepatitis B and C, HIV, and HTLV-1viruses, and for a pregnancy test for women who can become pregnant Research purposes. This blood is analyzed for genes, proteins, sugars, and fat molecules.

Worldwide, several studies report that 4.4% to 85.4% of thalassemia patients were positive for anti hepatitis C antibodies. Recently, three different studies reported the efficacy and the safety of combination therapy with pegylated interferon and ribavirin in thalassemic patients. This study is carried ahead to assess the impact of combination therapy with pegylated-interferon and ribavirin in a large cohort of italian patients with beta thalassemia major - transfused and not transfused, sickle cell disease and sickle/beta-thalassemia.

This retrospective study aims to investigate pregnancy outcome in women with heterozygous hemoglobinopathies (regarding gestational diabetes, cholestasis and urinary tract infections) and to analyze if there are aggravated maternal and/or perinatal risks.

Hgb C is an hemoglobinopathy quite rare in Israel. The clinical status of patients that are diagnosed as homozygous to this disease is quite benign but not study in large groups. Also the characteristics of carriers and the incidence in northern Israel were a large arab population lives, was not study. The results of this study can be useful for screening purpose in a area were another hemoglobinopathies are frequent.

Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental laboratory models to study potential new treatments. This is an observational study using bone marrow from human participants. The investigators will use sickle cell and thalassemia mouse models to observe and evaluate the possibility of correcting these disorders through genetic alterations or drug treatment.

New York City (NYC) has become the epicenter of the worldwide pandemic caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). By collecting and summarizing the experience with other major health care providers in the tristate (New York (NY), New Jersey (NJ) and Connecticut (CT)) are, the investigators are uniquely positioned to inform the rest of the country about what to expect and how to manage children and young adults with hematological, oncological or stem cell transplant diagnoses during the pandemic.

Patients diagnosed as having hemoglobinopathies are exposed to serious bacterial infections, principally those patients that underwent splenectomy. Since the introduction of anti pneumococcal vaccine the incidence decreased significantly but other bacteria besides encapsulated bacteria takes place as principal cause of invasive infections. The purpose of this study is to analyse in a retrospective study the incidence of those infections in a group of patients suffering from thalassemia and sickle cell anemia treated in our clinic.

Transcranial Doppler ultrasonography (TCD) is a noninvasive, portable technique for evaluating the intracranial vasculature. TCD ultrasonography is performed placing a low frequency (≤ 2 MHz) transducer on the scalp of the patient, in order to visualize the intracranial arterial vessels through specific acoustic windows, where bone is thinner, and evaluate cerebral blood flow velocity (CBFV) . Patients diagnosed to have hemoglobinopathy conditions with its most common forms thalassemia and sickle cell disease manifest both biochemical and clinical evidence of hypercoagulability conditions include deep venous thrombosis, pulmonary emboli and recurrent arterial occlusion . Cerebrovascular accidents can be identified using transcranial Doppler ultrasonography which enables evaluation of cerebral artery blood flow velocity with a sensitivity of 90% and specificity of 100 % when compared with cerebral angiography . According to the stroke prevention trial in sickle cell anemia (STOP) study ,TCDs were classified based on blood velocity in the circle of Willis, expressed as time averaged mean of the maximum velocity (TAMMV). Children with abnormal, high velocities (>200cm/s) were at increased risk of stroke, which was reduced by 90% after starting regular blood transfusions. TAMMVs less than 170cm/s were classified as normal with annual TCD scanning recommended, whereas velocities between 170 and 200cm/s were called conditional, and followed up more closely without starting transfusion.

A prospective, observational, comparative study with no intervention.The objective of the study to compare the efficiency of detecting glycemic abnormalities using Continuous Glucose Monitoring (CGMs) versus Oral Glucose Tolerance Test (OGTT) and HbA1C (Glycated Hemoglobin) and their relation to iron overload detected by T2* MRI of the pancreas in high-risk patients due to insulin deficiency (potential beta cell injury) and those with insulin resistance and to study the different factors that may affect the glycemic control in these patients in relation to their results like the Dose of corticosteroids and chemotherapy in ALL and Hemoglobinopathies, Liver function in ALL and Hemoglobinopathies, and Serum ferritin in Hemoglobinopathies and their transfusion status. Using Validated Tools with Permission, the participants will be selected through probability (random) sampling method with expected subjects numbers ALL/L: 30-50, Thalassemia Major: 20, Sickle cell disease: 20.