What do we actually mean by the Sickle Cell Disease?

Sickle cell disease! Sounds familiar? Yes, it is a common chronic blood disorder which generally shows anemia-like symptoms in the affected population. Sickle-cell disease is a rare disorder in India with less than 1 million cases per year. But it is a fairly common condition in African and Mediterranean population.

Basically, it is an inherited blood disorder in which the shape of RBCs is characteristically “sickle-shaped” or “crescent-shaped” instead of its normal biconcave shape. Now, let us understand how is this change in shape affects the patient suffering from it. Since the main function of an RBC is to carry oxygen to all organs of the body, a change in the shape of a red blood cell drastically affects its oxygen-carrying capacity.

The life expectancy of a person suffering from the sickle cell disease is nearly 40-47 years as per certain studies. This is not a definite number as it can increase or decrease depending upon the quality of care a patient receives.

Why is the Sickle cell Disease Problematic?

The sickle-shaped cells cause many problems for the individual. Firstly, the cells are not flexible as a result of which they burst apart more often than usual. This reduces the lifespan of the RBCs to 10-12 days from 90-120 days. Thus, there is a discontinuity in the rate of production of new cells and destruction of the old ones. Also, the sickle-shaped cells can stick to the blood vessels causing an obstruction to the blood flow. The lack of oxygen to certain vital organs can cause sudden severe pain and ischaemic crisis.

What are its Symptoms?

Which leads us to the symptoms of the Sickle Cell disease. The symptoms of the sickle cell disease vary from mild to severe anemia in the patients carrying the sickle cell gene. The patient can just be a carrier of the trait with no apparent clinical symptoms or can be suffering from the severe form where the patient receives the sickle cell trait from both the parents. Some of the common symptoms of sickle cell disease are fatigue and tiredness, pain, or infections. Painful swelling can usually be seen in the hands and limbs of the affected patients. Presence of jaundice or “yellowish-discoloration” of the skin and in eyes (“Icterus”) is also observed.

Are there any complications associated with the Sickle Cell disease?
There might also occur a number of complications in sickle cell disease patients. The children suffering from sickle cell disease may have delayed growth and are generally shorter but usually, regain their height by adulthood. Seizures, strokes, or even coma can result from sickle cell disease. Blindness and skin problems may occur if the vessels of these respective organs are blocked. Gallstones are other sets of problems which are not related to the blockage of arteries but due to the accumulation of pigment- bilirubin which is the result of the constant breakdown of red blood cells.

The diagnosis of the sickle cell disease is mostly done as per the presented symptoms by the patients. Also, the doctor may prescribe certain diagnostic tests just to be sure. These could be blood tests (blood counts can reveal abnormal Hb levels) and “Hb electrophoresis” which determines the type of hemoglobin in the blood.

Is it preventable?

The Sickle Cell disease can be prevented with early diagnosis. Genetic counseling of the parents is a necessary step. It informs the parents about their genetic make-up and the possibility of transmission of the disease to their offspring. The new intra-natal diagnostic techniques even allow detection of the occurrence of sickle cell disease in the child before it is born. This is important as it becomes easier for the doctor to manage the sickle cell disease from early on.  

How can it be treated? Is it curable?

As far as the cure for sickle cell disease is concerned, a bone marrow transplant is the only possibility. But it poses severe risks and is very vulnerable to failure and rejection. This treatment option is not indicated for severe cases of the sickle cell disease. For patients with a mild form of the disease, the bone marrow transplant can still be considered because it’s less risky and complicated for them.

Otherwise, the physician generally manages the disease symptomatically. They generally prefer treating the complications occurring in the individual such as the artery disease or the pain crisis or jaundice and anemia.

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What is a Sickle Cell Trait?

Sickle cell trait is a defect in the genetic make-up of an individual. This results in the occurrence of abnormally sickle-shaped red blood cells with a defective hemoglobin chain (HbS). The patient suffering from sickle cell disease often suffers from oxygen deficiency to various vital organs of the body.

Is it completely Curable?

There is no sure shot cure for genetic disorders although a variety of treatment options have been tried. Bone marrow transplant has shown some promising results but as of now, it is not that commonly used. It is contraindicated in patients suffering from severe disease. Bone marrow transplantation as sickle cell anemia treatment has shown the most promising results in children who are below the age of 16 years due to fewer complications.

How are patients with the disease treated?

No matter how trivial the disease is, our doctors can take care of it. There is no particular sickle cell anemia treatment but symptomatic relief is possible. Sickle cell anemia treatment is a lifelong thing. The treatment involves a number of specialists such as a pediatrician, a hematologist, a cardiologist, a pulmonologist, a neurologist and an emergency medicine doctor.

Loading the patient with the optimal amount of intravenous fluids to help against the rehydration is an important measure. This helps the RBCs to return to their normal state. This sickle cell anemia treatment helps to prevent RBCs to turn back to being sickle shaped due to dehydration.

Blood transfusions have greatly proved to be a helpful sickle cell anemia treatment measure. It helps to improve the blood oxygen and facilitate the transport of nutrients to all parts of the body. Before the transfusion, packed red cells are removed from the donor blood. Patients receiving a lot of blood transfusions may also require iron chelation therapy to reduce the excess amount of iron from the body.

Sickle cell anemia treatment also involves taking care of persistent infectious conditions. It is an imperative part of managing the crisis. The patient is given antibiotics as soon as an infection is detected as the stress of infection can cause complications for the patients. The patients are more prone to infections than other patients. So as a part of the sickle cell anemia treatment, immunizations for various types of common infections can be given. Vaccines may include “Hepatitis-B vaccine” or the annual flu vaccine.

Pain medications are also a part of sickle cell anemia treatment. These are routinely prescribed by the physician. The medication may get as strong as morphine during the crisis. Some over the counter drugs can also be used.

Since there is a lack of oxygen, provision of supplemental oxygen through a mask has given some positive results in the sickle cell anemia treatment.

Some drugs that increase the production of fetal hemoglobin are being used in sickle cell anemia treatment. These reduce the requirement for blood transfusions. The drug of choice is hydroxyurea. It has shown some promising results in these patients. Hydroxycarbamide can also be used to lower other blood cells such as white cells or the platelets. But in order to use it’s regular blood tests are mandatory.

Other necessary surgeries and treatment modalities can be used for other complications such as the gallstones, or the heart and chest problems, priapism, leg ulcers, or stroke, or the acute chest syndrome.

What are the other home-based needs of the patients?

Along with these medical measures, any disease requires a long-term home-based care regime. It is always difficult for the patient to recover or feel better without the support of their family and friends. Sickle cell anemia treatment even though its symptomatic requires regular care of the patient. Some of the common measures include taking folic acid supplements, using heating pads for pain relief, drinking an adequate amount of water to counteract dehydration etc. Exercising regularly and reducing stress also helps a lot.

Sickle cell anemia treatment is a tricky thing to do. Doctors are trained to do that but it is always difficult for the caregivers. Any slight chance of infection should be treated promptly and adequately with doctor’s intervention.

Can it be prevented?

All of this considered the best Sickle Cell Anemia treatment is prevention. This calls for mandatory genetic counseling for a couple. Even individuals should get to know their sickle cell gene status.

What is BloodCancerCure:

BloodCancerCure is the world’s first such organization working 24*7 on helping blood cancer patients. BloodCancerCure works for patients across the world by providing the lowest cost for bone marrow transplants, chemotherapy, and Bone marrow test. You can contact at +91-8448533753 to talk to our experts at BloodCancerCure for BMT treatment in India.

Sickle Cell disease is a complex disorder:

Sickle cell disease has a large number of complications along with a variety of types. It is basically an autosomal recessive trait. This means that the gene for the sickle cell disease should come from both the parents. A patient with only one sickle cell gene is known to be a carrier of sickle cell trait.

It is a condition in which the patient suffers from various chronic symptoms which occur due to deficient blood or oxygen supply to various important organs. In sickle cell crisis, the abnormally shaped sickle cell red blood cells tend to stick to the arterial wall and cause attacks of severe, sudden pain or “Pain Crisis”. The intensity of pain and frequency of episodes of pain can increase with increasing age. The number of hospitalizations just tend to show only a marginal amount of patient suffering. The severity and intensity of pain for those who do not reach the hospital is still unknown. The crisis has its manifestation in a variety of organs of the body such as eyes, heart, lungs, limbs etc. In order to have a better understanding of the sickle cell crisis, we shall try to understand its effects on the body.

Firstly, we shall look into the neurological deficits. A patient suffering from sickle cell crisis may have seizure episodes, strokes or coma in some patients. It occurs due to deficient supply of blood to the brain.

The spleen is an important organ which consists of a lot of small and big arteries. When during the cell crisis, the splenic vessels are blocked, doctors call it “splenic sequestration”. As a result, of which spleen may become enlarged and may have to be removed. Also, in some cases, the spleen itself stops working due to lack of oxygen and starts shrinking. It shrinks until it is no longer viable. This is termed as “auto splenectomy”. The operation is known a “splenectomy”. The major function of the spleen is to protect against infections. The patients which have undergone splenectomy are more prone to infections such as Haemophilus, influenza, and streptococcus.

When in the crisis, the blood vessels of the hand and feet are blocked, the result is the swelling of hands and feet. It can also lead to leg ulcers. It is one of the first signs of sickle cell disease in the infants.

Another complication associated with the Sickle Cell crisis is heart and chest disease symptoms. The lack of oxygen in the blood cause problems such as heart attack, heart failures, and abnormal heart rhythms. As a result, there is the weakening of heart muscle. Over a period of time, chronic sickle cell crisis causes moderate to severe damage to the lungs. The result of which is pulmonary hypertension (high blood pressure in the lungs) or pulmonary fibrosis (scarring of the lungs). The long-term damage to lung further reduces the oxygen supply and can cause frequent episodes of sickle cell crisis.

A severe type of crisis is “sickle chest syndrome”. It is a condition which is associated with chest pains, cough, fever, sputum production, shortness of breath, and low blood oxygen levels. X-ray shows either pneumonia or dead lung tissue. The sickle chest syndrome worsens the prognosis for the patients.

But let us talk about the individuals with the so-called “sickle cell trait”. These individuals do not suffer from any of the complications of the sickle cell disease. They carry the gene for the disease and can even transfer the disease but do not suffer from the disease. If a person with sickle cell trait marries another person with the disease or the trait, their child is likely to develop the severe form of the disease. Since it is an inherited disease, pre-marital genetic counseling should be mandatory. Various hospitals in India, offer good quality counselors and gene tests which can adequately tell the patients about their genetic make-up. It helps one to understand preventive measures, possible treatments, and reproductive options.

So, we can safely say that a person having a sickle cell trait does not suffer from sickle cell crisis. He/she might suffer from mild anemia though which can/cannot be attributed to the sickle cell syndrome.

About BloodCancerCure:

BloodCancerCure is the world’s first such organization working 24*7 on helping blood cancer patients. BloodCancerCure works for patients across world by providing the lowest cost for bone marrow transplants, chemotherapy, and Bone marrow test. You can contact at +91-8448533753 to talk to our experts at BloodCancerCure for BMT treatment in India.