Know Your Genotype

Last month was .

We at believe that youth-focused awareness creation is the one effective way of fading out the S and C genes and achieving zero

With aggressive public education, the occurrence of the mutation in the next 4 to 5 generations will be close to zero.

But awareness creation doesn't have to start and end in September. We have to keep the conversation going. We entreat you all to add your voices to our cause.

Day 30 of

As we draw the curtains on September, a month dedicated to , we dedicate today to encouraging

You are loved, you are resilient, you are an achiever, you are strong and your struggle is valid.

Day 28 of

Today we talk about how our red blood cells evolved to protect us against malaria.

How did the Sickle gene mutation come into existence? Was it accidental? Or was it nature's answer to a population threatening problem?

The mutation came about to protect people in malaria endemic zones against severe life-threatening malaria... but there was a catch. Just like with any medication where a person is limited a specific dosage, to remain protected against malaria and healthy at the same time, a person needs only one mutated gene, not two... having two of the mutated genes has the opposite effect on people, making them rather susceptible to malaria amidst a myriad of associated health problems.

Talk of fatal overdoses.

With migration (especially during the Trans Atlantic Slave Trade), the gene spread to other parts of the world where malaria was not endemic. This explains why is seen mostly in the black population.

Even when the mutation still "in circulation", there is a simple way to prevent innocent children from being born with "the fatal overdose" of two mutated genes. ZERO SICKLE CELL DISEASE is attainable. It starts with knowing if you carry the the mutation and making genetically responsible partner choices.

Day 27 of

Sickle Cell Disease does not be affect only the physical health of individuals living with it, it has a grave effect on their mental health too.

are strong and courageous and fight to live a fulfilling life despite the setbacks presented to them by the condition.

How does Sickle Cell Disease affect the mental health of persons living with it?

Day 26 of

Yesterday we made mention of the fact that caregivers have an influence on disease expression and outcomes in individuals living with

Today we talk about some things caregivers could do, to help the people they care for.

Day 25 of

What is meant by Phenotypic Expression of a genetic disease?

The Oxford Dictionary defines as the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.

Although an individual inherits the disease genetically his/her physical environment plays a very crucial role in how the disease plays or out. This explains why some individuals with look very strong and healthy.

Today we discuss some environmental factors that influence the disease experience and disease outcomes in persons with disease.

Week 4 of

As we gradually approach the end of the awareness creation and education month on we will discuss some factors that influence disease outcomes in individuals living with Disease, how influences the mental health of both individuals living with it and their caregivers among some other interesting topics.

Stay with us this week for more.

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Day 23 of

Is there a cure for ?

Currently there is one approved curative treatment for Disease. Hematopoietic Stem Cell Transplantation. Unfortunately it is not available to all persons living with the disease because it's limited to only people who can find matching donors.

A second option which is still under research is Gene Therapy, but since it's still being investigated, the only way to receive the treatment is by participating in a clinical trial. It's approval may introduce a curative treatment with greater accessibility.

Day 22 of

Thanks to years of extensive research, there are drugs that help mitigate and even correct the process and effects of sickling of red blood cells in individuals with Sickle Cell Disease.

In today's post, we discuss some of these drugs and talk about how they achieve this.

Day 21 of

Blood transfusion is a life-saving procedure utilized in emergencies that individuals living with Disease experience.

Today, we highlight the importance of blood transfusion in the management of some of the life-threatening complications of .

Day 20 of

The lives of individuals living with disease are riddled with pain.
The most common presentation of the disease is pain from vaso-occlusive episodes. Optimally managing this pain goes a long way to improve the lives of these individuals.

What are some management options for pain in ?

Day 19 of

Children with a severe physical expression of tend to have functional asplenia (loss of function of the spleen) due to autosplenectomy (which we explained in our post on day 13). The spleen helps the body fight infections and without it these children are bound to succumb to serious infections.

Prophylactic management includes getting vaccinated against common infectious agents and taking Penicillin V over a long period of time.

Day 18 of

Supportive management of includes taking medications and non-pharmacological measures to help the body "keep up" with the disease.

Haematinics helps individuals living with to make new red blood cells to replace the ones being lost because of sickling.

Optimal nutrition and adequate hydration is also of paramount importance.

Day 17 of

The treatment of Sickle Cell Disease can take 4 different forms.

It's imperative for individuals with a severe physical expression of the disease to take medications and non-pharmacogical interventions to alleviate the long term effects of the disease process on their bodies, even on days when they do not feel unwell. This is considered supportive therapy.

Corrective treatment aims to correct adverse effects of the disease on the body, like correction of anaemia resulting from Acute Haemolytic Crises or Aplastic Crises, correction of circulatory collapse during an Acute Splenic Sequestration Crisis and management of pain during vaso-occlusive crises. There are medications which also work to intervene in the process of sickling.

Prophylactic treatment includes vaccination against certain infectious agents and taking prophylactic antibiotics. This is beneficial because people with are particularly susceptible to infections due to functional loss of the spleen with works to help prevent infections in the body.

With research, there are some curative treatment options. These may not be 100% efficacious in every patient but have benefited some

Day 14 of

Sickle Cell patients are "always sick" because apart from their pain crises, they frequently have to battle multiple infections.

This is because, just like we explained yesterday, they have little to no spleen function, a result of the disease process.

Today we talk about some of the commonest infections seen in individuals living with

Day 13 of

Did you know that the spleen is considered to be the first organ injured in Sickle Cell patients?

By the 12th month of their lives, the disease would've already caused significant damage to the spleen and by the 5th year of their lives some totally lose their spleens to the disease.

Without the spleen, the body's susceptibility to infections is markedly elevated. This is one of the key reasons why individuals with Sickle Cell Disease are known to be "constantly sick".

Day 12 of

Sickle Cell patients have frequent hemolytic crisis episodes. These have serious implications on a number of their organs.

Some of these complications are seen right after an Acute Haemolytic Crisis episode and others are a result of frequent episodes of haemolysis of red blood cells.

Today, we talk about the complications of Haemolytic crisis in individuals with Sickle Cell Disease.

Day 11 of

Vaso-occlusive crisis is popularly known as pain crisis.

We explained how it occurs and it's tendency to damage numerous organs.

Today we touch on some of the triggers of Vaso-Occlusive Crisis (VOC) in Sickle Cell patients.
While being careful to avoid these triggers may not absolutely prevent VOC in individuals with Sickle Cell Disease, it may greatly reduce the frequency of experiencing crises.

Day 10 of

Vaso-occlusive crisis is one of the commonest crisis sickle cell patients experience. It may occur in any organ at all, resulting in a myriad of medical complications.

•If it should happen in the brain it could cause a Stroke.
•If it should happen in the lungs it could cause Acute Chest Syndrome (ACS).
•If it should happen in the p***s it could result in Priapism.
•If it should happen in the eyes it could cause Blindness.
•If it should happen in the bones of the hands and feet it could result in Dactylitis.
•If it should happen in the femur it could result in Avascular Necrosis of the head of the Femur.

The list goes on and on.

Today we discuss some of these complications of Vaso-Occlusive Crises in Sickle Cell Patients.

Day 9 of

Sickle Cell patients have multiple crises depending on the severity of the phenotypic expression of the disease in each of them.

Let's delve into the 4 main crises they experience.

In Week 1 of , we introduced Sickle Cell Disease, talking about what it is and how it's inherited.

This week, we discuss the crises that Sickle Cell patients experience and their complications.

Day 7 of

It's been a week already.
Before we take a recap of what we put across this week, and since we didn't put out any educative information on the first day, let's define the three key terms we kept using this week.

Genes. Mutations. Haemoglobin.

Sickle Cell Disease revolves around these three words.

Day 6 of

Sickle Cell Disease is an inherited haemoglobinopathy.

This makes it both a genetic disorder and haematological disorder.

Today we explain the genetics of Sickle Cell Disease.

Day 5 of

We hear the term "Hb" a lot.

What is Haemoglobin?

What role does it play in Sickle Cell Disease?

The bottom line of Sickle Cell Disease is that the kind of haemoglobin that the patients have are different from the normal ones found in the red cells of people who don't have the disease.

That is why the disease is called a haemoglobinopathy.

Day 4 of

Why the name Sickle Cell?

Day 3 of

Carriers (Genotypes AS and AC) typically show no symptoms of Sickle Cell Disease because the one haemoglobin A (HbA) gene they have is enough to keep them healthy. Because of this, they can go through their whole lives not knowing they carry the Sickle Cell mutation.

This puts them at risk of unknowingly passing down the mutation to their offspring.

Consider an instance where:
Biological Mother is genotype AS (Carrier)
Biological Father is AS (Carrier)

• There's a 25% chance in every pregnancy that the child they're carrying will have haemoglobins S&S (Sickle Cell Disease)

•There's a 50% chance in every pregnancy that the child they're carrying will have haemoglobins A&S (Carriers of the mutated gene)

•There's a 25% chance in every pregnancy that the child they're carrying will have haemoglobins A&A (Normal)

Day 2 of

Sickle Cell Disease is inherited in an Autosomal Recessive way. This means that an individual will have to inherit mutated genes from BOTH PARENTS before being considered as having the disease; and at least one of these mutated genes will have to be the one that instructs the production of haemoglobin S (HbS).

An individual who inherits only one mutated gene will not have the disease, but will be considered a CARRIER of the mutation.
When Carriers know their genotypes, they are equipped to make genetically responsible partner choices and reduce the prevalence of Sickle Cell Disease.

Hello September 🙂, we've been waiting for you!

This month is a special month dedicated to raising awareness on Sickle Cell Disease.

Effacing Sickle Cell Disease starts with you knowing about it. Join us this month as we demystify the disease.