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Sickle Symptoms and Causes

What is Sickle cell disease?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or Sickle, shape.

The Sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The Sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.

The Sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.

What causes Sickle cell disease?

The cause of SCD is a defective gene, called a Sickle cell gene. People with the disease are born with two Sickle cell genes, one from each parent.

If you are born with one Sickle cell gene, it's called Sickle cell trait. People with Sickle cell trait are generally healthy, but they can pass the defective gene on to their children.

Who is at risk for Sickle cell disease?

In the United States, most of the people with SCD are African Americans:

  • About 1 in 13 African American babies is born with Sickle cell trait
  • About 1 in every 365 black children is born with Sickle cell disease

SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.

What are the symptoms of Sickle cell disease?

People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include

  • Painful swelling of the hands and feet
  • Fatigue or fussiness from anemia
  • A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)

The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.

How is Sickle cell disease diagnosed?

A blood test can show if you have SCD or Sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.

People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.

Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).

What are the treatments for Sickle cell disease?

The only cure for SCD is bone marrow or stem cell transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.

There are treatments that can help relieve symptoms, lessen complications, and prolong life:

  • Antibiotics to try to prevent infections in younger children
  • Pain relievers for acute or chronic pain
  • Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy.
  • Childhood immunizations to prevent infections
  • Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.

There are other treatments for specific complications.

To stay as healthy as possible, make sure that you get regular medical care, live a healthy lifestyle, and avoid situations that may set off a pain crisis.

NIH: National Heart, Lung, and Blood Institute

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Sickle Clinical Trials and Studies

Treatments might be new drugs or new combinations of drugs, new surgical procedures or devices, or new ways to use existing treatments. The goal of clinical trials is to determine if a new test or treatment works and is safe. Clinical trials can also look at other aspects of care, such as improving the quality of life for people with chronic illnesses. People participate in clinical trials for a variety of reasons. Healthy volunteers say they participate to help others and to contribute to moving science forward. Participants with an illness or disease also participate to help others, but also to possibly receive the newest treatment and to have the additional care and attention from the clinical trial staff.
Rank Status Study
1 Not yet recruiting Realizing Effectiveness Across Continents With Hydroxyurea (REACH)
Condition: Sickle Cell Disease
Intervention: Drug: Hydroxyurea
Outcome Measures: Safety;   Efficacy;   Feasibility
2 Recruiting Sickle Cell Disease - Stroke Prevention in Nigeria Trial
Conditions: Sickle Cell Anemia;   Sickle Cell Disease;   Stroke
Intervention: Drug: Hydroxyurea
Outcome Measures: Hydroxyurea Therapy Acceptance and Adherence;   Hydroxyurea Safety protocol for Children with Sickle Cell Anemia
3 Recruiting Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET)
Conditions: High Risk Polycythemia Vera;   High Risk Essential Thrombocythemia
Interventions: Drug: PEGASYS;   Drug: Hydroxyurea;   Drug: Aspirin
Outcome Measures: To compare hematologic response rates in patients randomized to treatment with Pegylated Interferon Alfa-2a vs Hydroxyurea in two strata of patients with high risk polycythemia vera (PV) or high risk essential thrombocythemia (ET).;   To compare the toxicity, safety and tolerability of therapy (Pegylated Interferon Alfa-2a vs. Hydroxyurea) in the study populations by recording the adverse events that occur during the study using the CTC 4.0 as the guide.;   To compare the hematologic partial response rates on therapy (Pegylated Interferon Alfa-2a vs. Hydroxyurea).;   To compare specific pre-defined toxicity and tolerance of therapy (Pegylated Interferon Alfa-2a vs. Hydroxyurea) and validate the utility of sequential structured symptom assessment package of patient reported outcome instruments.;   To compare the impact of therapy (Pegylated Interferon Alfa-2a vs. Hydroxyurea) on key biomarkers of the disease(s) by measuring the JAK2 allele burden.;   To compare the impact of therapy on JAK2-V617F (JAK2), hematopoietic cell clonality in platelets and granulocytes in females, bone marrow histopathology, and cytogenetic abnormalities.;   To estimate survival and incidence of development of myelodysplastic syndrome, myelofibrosis, or leukemic transformation after therapy (Pegylated Interferon Alfa-2a vs. Hydroxyurea).;   To estimate incidence of major cardiovascular events after therapy (Pegylated Interferon Alfa-2a vs. Hydroxyurea).
4 Recruiting Pharmacokinetics (PK) of Liquid Hydroxyurea in Pediatric Patients With Sickle Cell Anemia
Condition: Sickle Cell Anemia
Intervention: Drug: Hydroxyurea
Outcome Measures: Composite of Pharmacokinetics;   Pharmacokinetics of HU;   Bioavailability of HU
5 Unknown  Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin.
Condition: Thalassemia Intermedia
Interventions: Drug: Hydroxyurea ,Epiao;   Drug: hydroxyurea, blood transfusion
Outcome Measures: Change in baseline transfusion frequency with increase of pre-transfusion hemoglobin;   Change in baseline quality of life assessment.
6 Recruiting A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms
Conditions: Polycythemia Vera;   Essential Thrombocythemia;   Primary Myelofibrosis
Interventions: Drug: PegIntron;   Drug: Pegasys;   Drug: Hydrea
Outcome Measures: molecular response (changes from baseline);   toxicity (discontinuation of therapy due to intolerability);   Quality of life (changes from baseline);   Histopathological response (changes from baseline);   Sustained molecular response (changes from level at time of discontinuation of therapy);   Neutralizing antibodies against PegIntron and Pegasys;   hematological response
7 Recruiting Hydroxyurea to Prevent Brain Injury in Sickle Cell Disease
Conditions: Sickle Cell Disease;   Stroke
Interventions: Drug: Hydroxyurea;   Drug: Placebo
Outcome Measures: Central Nervous System Complications;   Proportion of participants with severe adverse events attributed to study procedures;   Proportion of participants undergoing randomization
8 Recruiting Study of SANGUINATE™ Versus Hydroxyurea in Sickle Cell Disease (SCD) Patients
Condition: Sickle Cell Disease
Interventions: Biological: SANGUINATE™;   Drug: Hydroxyurea
Outcome Measure: To Compare SANGUINATE™ and Hydroxyurea in Sickle Cell Disease patients.
9 Recruiting Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera
Condition: Polycythemia Vera
Interventions: Drug: Peg-P-IFN-alpha-2b (AOP2014);   Drug: Hydroxyurea
Outcome Measures: Disease response rate;   Disaese response;   JAK2 allelic burden changes;   time to response;   duration of response;   number of phlebotomies;   blood parameters;   spleen size;   disease related symptoms;   adverse events;   protocol-specific adverse events of special interest
10 Recruiting Primary Thrombocythaemia 1 Trial
Conditions: Thrombocythemia;   Myeloproliferative Disorder
Interventions: Drug: Hydroxyurea;   Drug: Aspirin
Outcome Measures: Does hydroxyurea reduce thrombosis and major haemorrhage when added to aspirin?;   Does treatment modality alter the risk of leukaemic or myelofibrotic transformation?
11 Recruiting Prediction of Maximum Tolerated Dose for Hydroxyurea Treatment in Sickle Cell Disease
Condition: Sickle Cell Disease
Intervention: Drug: Hydroxyurea
Outcome Measures: Time to patients reaching the maximum tolerated dose (MTD) of the medication;   Safety Analysis
12 Recruiting Long Term Effects of Hydroxyurea Therapy in Children With Sickle Cell Disease
Condition: Sickle Cell Disease
Intervention:
Outcome Measures: DNA damage from hydroxyurea therapy-variable-diversity-joining (VDJ) recombination events defined as the number of events per microgram of genomic DNA;;   DNA damage from hydroxyurea therapy-percentage of HJB in immature (CD71+) erythrocytes;   Brain function as measured by MRI/MRA and TCD;   Splenic function as measured by Spleen Scan;   Kidney function as measured by BUN/creatinine and Urinalysis, glomerular filtration rate (GFR);   Lung function as measured by forced vital capacity (FVC) (%), forced vital volume in 1 second (FVC1) (%), and tricuspid regurgitation (TR) jet on Echocardiogram (ECHO);   Growth as measured by height and weight
13 Recruiting Hydroxyurea in Pulmonary Arterial Hypertension
Condition: Pulmonary Hypertension
Intervention: Drug: Hydroxyurea
Outcome Measure: The change in concentration of CD34+ circulating progenitors from baseline to 6 months (24 weeks (+/- 7 days)) on hydroxyurea.
14 Not yet recruiting Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment
Conditions: Sickle Cell Disease;   Sickle Cell Anemia
Intervention: Drug: hydroxyurea
Outcome Measures: Cytopenia;   Development of infection evaluated by a physician at the point of care
15 Recruiting Sleep Respiratory Disorders Evaluation in Sickle Cell Disease Children: Hydroxycarbamide Effect on Isolated Hypoxemia
Conditions: Sickle Cell Disease;   Respiration Disorders
Intervention: Drug: Hydroxycarbamide
Outcome Measures: Vaso-occlusive and cerebral complications frequency;   Hydroxycarbamide versus placebo efficacy;   Respiratory sleep abnormalities frequency;   Relationship between sleep abnormalities and transcranial doppler abnormalities;   Polysomnography relevance compared to sleep ventilatory polygraphy
16 Not yet recruiting Novel Use Of Hydroxyurea in an African Region With Malaria
Conditions: Sickle Cell Anemia;   Sickle Cell Disease;   Malaria
Interventions: Drug: Hydroxyurea;   Drug: Placebo
Outcome Measures: Malaria incidence;   Incidence of SCA-related adverse events;   Incidence of hematologic toxicities;   Change in fetal hemoglobin (HbF) level;   Change in plasma concentration of soluble intracellular adhesion molecule-1 (sICAM-1);   Change in plasma concentration of nitric oxide (NO);   Malaria incidence (using additional criteria);   Change in plasma concentration of vascular cellular adhesion molecule-1 (VCAM-1);   Change in plasma concentration of von Willebrand factor (VWF);   Change in plasma concentration of tumor necrosis factor-alpha (TNF-alpha)
17 Unknown  Hydroxyurea With or Without Imatinib Mesylate in Treating Patients With Recurrent or Progressive Meningioma
Condition: Brain and Central Nervous System Tumors
Interventions: Drug: hydroxyurea;   Drug: imatinib mesylate
Outcome Measures: Progression-free survival, defined as ≥ 25% increase in tumor volume or new tumor on MRI;   Survival;   Response rate according to MacDonald criteria;   Toxicity as assessed by NCI CTCAE v. 3.0
18 Recruiting Hydroxyurea Adherence for Personal Best in Sickle Cell Treatment: HABIT
Condition: Sickle Cell Disease
Interventions: Behavioral: Community Health Worker (CHW);   Behavioral: Education
Outcome Measures: Effect size of the intervention on hydroxyurea (HU) adherence;   Effect size of the intervention on youth-parent communication about self-management responsibility;   Effect size of the intervention on youth-parent communication about quality of life (QOL);   Effect size of the intervention on youth-parent communication about resource use
19 Recruiting Phase II of Chemotherapy for Relapsed Epstein Barr Virus Associated Lymphoma
Conditions: Epstein Barr Virus Associated Non Hodgkin's Lymphoma;   Epstein Barr Virus Associated Hodgkin's Lymphoma;   Post-Transplant Lymphoproliferative Disease
Interventions: Drug: Doxorubicin;   Drug: Methotrexate;   Drug: Leucovorin;   Biological: Hydroxyurea;   Drug: Zidovudine;   Procedure: Urine Alkalization
Outcome Measure: Overall Survival Rate of Subjects
20 Recruiting Phase 2 Study of Montelukast for the Treatment of Sickle Cell Anemia
Condition: Sickle Cell Anemia (HbSS, or HbSβ-thalassemia0)
Interventions: Drug: Montelukast added to Hydroxyurea;   Drug: Placebo added to Hydroxyurea
Outcome Measure: Improvement in soluble vascular cell adhesion molecule-1 (sVCAM)