How to Help a Family Member With Sickle Cell Disease
Having a family member with Sickle Cell Disease can be very stressful. But, there are many ways you can help them.
Prevalence in India
Approximately 1.4 million individuals in India are estimated to be sickle cell carriers. This number is expected to rise to 400,000 by 2050. This disease results from the polymerization of mutated hemoglobin.
The disease is more common among tribal populations than in non-tribal populations. These groups rely on primary healthcare facilities in remote areas. Compared to non-tribal communities, tribal patients tend to have milder presentations of the disease.
Although the cause of sickle cell disease remains unknown, it is believed to be due to a single mutation in the b-globin chain gene. In addition, the disease is influenced by a number of genetic and environmental factors. It is characterized by sickle-shaped red blood cells and is associated with a higher risk of acute chest syndrome. The disease is also known to be associated with proliferative sickle retinopathy. It may be associated with avascular necrosis of the femoral head.
The prevalence of sickle cell in the Indian population is highest in the eastern Maharashtra districts. These include the Vidarbha region and the Satpura ranges. Several pilot projects have been conducted to introduce newborn screening for SCD in the state.
HbS oxygen affinity and polymerization
Biologically, sickle cell disease is a genetic disorder resulting from a single mutation in the b-chain of hemoglobin. The mutation produces long, rigid, fibers within red blood cells (RBCs). These fibers make the RBCs less flexible. This results in adverse inflammation, pain, and endothelial damage.
Besides the mutation, another factor contributing to the pathophysiology of sickle cell disease is the polymerization of the b-chain. This process results in oxidative stress and abnormal calcium homeostasis. This results in sickle-shaped RBCs. The sickle-shaped form of the RBCs impedes the movement of blood through narrow capillaries.
Currently, two types of small molecule strategies are being evaluated in the clinic. These strategies aim to shift hemoglobin production away from sickle hemoglobin and into long-fiber-producing fetal hemoglobin.
The second type of approach involves chemical modification of the hemoglobin molecule. This strategy is used to reduce the polymerization of the b-chain. Several compounds have been used in pre-clinical trials, including hydroxyurea, which is the first drug approved for treating sickle cell anemia. However, there are fewer drugs that directly target HbS polymerization.
Having a child with sickle cell disease can be a challenging experience. The best way to cope with this challenge is to get out of the house as much as possible. Getting out of the house can be a fun activity for the whole family. This is especially true if you have a feisty female in tow.
We have been known to have a few outings, but luckily for us, we have only had two in the last six months. Thankfully, these events are limited to the evenings and weekends. This gives us an ideal time to catch up with family and friends over a glass of wine.
The most difficult part is getting the kids to go to bed. The best time to spend is after dinner. Fortunately, we have a small staff and a few spare hours to play with.
Despite advances in the treatment of sickle cell disease, strokes remain a major cause of morbidity and mortality. Currently, there are no reliable guidelines for the management of strokes in patients with sickle cell disease.
The primary risk factors for ischemic stroke include elevated systolic blood pressure, recent onset of acute chest syndrome, and low steady-state hemoglobin concentration. In addition, vascular risk factors should be aggressively managed.
Among children with SCD, the risk for clinically apparent stroke is lowest at age two years. By the time a child reaches age forty-five, the risk is about twenty percent. The most effective strategy for managing ischemic stroke is prompt blood transfusion therapy. Several observational studies have indicated that prophylactic simple transfusions reduce the risk of ischemic stroke.
Other secondary prevention strategies include regular blood transfusion, blood transfusion therapy, and hydroxyurea therapy. However, no randomized trials have been conducted to compare the effectiveness of these interventions.
In a retrospective study of 137 SCD patients who had an acute stroke, the risk for recurrence of a second stroke was significantly reduced when the patient received an exchange transfusion. However, the use of exchange transfusion for subarachnoid hemorrhage is not clear.
Approximately 6 to 8% of patients with sickle cell anemia have a stroke. Ischemic strokes are more common in children. Risk factors include a recent episode of acute chest syndrome, a history of transient ischemic attack, or low steady-state hemoglobin.
Neurologic complications are the major cause of morbidity and mortality in sickle cell disease. The first documented case of a child with SCA exhibiting a neurologic complication was reported in 1923.
Although the rate of ischemic strokes in adults and children with SCA is low, the incidence of recurrent strokes is high. The recurrence rates are much higher in patients who had an initial stroke. Among those who had a stroke, recurrent stroke was associated with more serious brain damage.
Currently, there is no consensus regarding the acute management of stroke. There are limited data that can guide these efforts. Acute treatment options include hydration, oxygen, and pain medication.
A transcranial Doppler can be used to screen for long-term stroke risk in sickle cell disease. It is also possible to detect silent cerebral infarctions in patients with sickle cell anemia.
Drugs and biologics
Until recently, there was only one approved drug for sickle cell disease. The drug was hydroxyurea. It was used for a long time. However, this drug is not curative. Instead, it reduces the production of hemoglobin, the protein in red blood cells. In sickle cell disease, the proteins in red blood cells are abnormally C-shaped. This results in the blood cells sticking together. This leads to pain and other complications.
Biotechnology has opened the way for more exciting drugs. Biologics are medicines made from living cells. They can include proteins, growth factors, and cytokines. These drugs are usually administered directly to the patient.
While they are less accessible to patients, they are often better drugs. Their costs are also much higher than small molecules. But the price difference demonstrates that small molecules are more economically sustainable than biologics.
For some people, the cost of biologics may be equivalent to their average annual salary. In low-income countries, the high price of biologics makes them inaccessible.
In some countries, biologics are regulated. This means that they cannot be sold in retail stores. These policies help make biologics more accessible to patients. In other countries, however, the price of biologics can be unregulated. This increases the commercial wealth of the manufacturers. But, it also increases the impact on the patient population.
Screening for newborn babies with HbAS
Identifying newborn babies with HbAS and Sickle Cell Disease is important. This is to ensure that affected babies receive timely diagnosis and access to appropriate clinical care. It also helps to reduce the burden of these diseases in African countries.
Screening for newborn babies with HbAS and Sickle cell Disease involves the measurement of Hb fractions in whole blood. The results must be sent to the child health department and designated healthcare professional. If abnormal results are detected, confirmatory testing must be performed.
Point-of-care screening tests are inexpensive, easy to use, and provide reliable results. They are available in primary health care centers and ensure that newborns are identified as early as possible. They are also used to assess the feasibility of a routine screening program.
The results from the screening process can be used to determine whether newborns have sickle cell trait or sickle b+-thalassemia. Genetic testing can help identify newborns who have hemoglobinopathies at an early age, enabling treatment to be initiated as soon as possible. This can improve the course of the disease in severely ill patients in sub-Saharan Africa.
Treatment in high-income countries
Despite the fact that sickle cell disease (SCD) is a prevalent condition worldwide, the burden of SCD is particularly high in sub-Saharan Africa. While progress in easing the SCD burden has lagged behind other public-health efforts in Africa, massive new funding for curative and preventive SCD therapies has recently been announced. However, these new resources are unlikely to significantly improve the health of African SCD children in the near future.
While the majority of patients with SCD are born in sub-Saharan Africa, the disease also affects people from the Indian subcontinent, the Middle East, and Spanish-speaking regions in the Western Hemisphere. SCD is caused by abnormalities in the b-globin gene. This mutation leads to sickle-like red blood cells that have a stiff, brittle structure. As a result, SCD is a devastating condition that can cause debilitation, pain, and death.
Treatment is primarily focused on the prevention of a vaso-occlusive complication, acute chest syndrome (ACS). The diagnosis of ACS in high-income countries relies on pulse oximetry and chest radiographs. A constellation of symptoms may require additional oxygen or blood transfusion.
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