The good news is, however, that hemoglobin disorders make up some diseases that can be detected through genetic testing. So, with the help of DNA testing kits, you'll be able to detect and manage these disorders to prevent long-term damage.
According to WHO, hemoglobin disorders affect over 5% of the world’s population. The Center for Disease Control and Prevention gives even more streamlined statistics, stating that over 100,000 Americans are carriers of sickle cell disease (SCD).
These numbers emphasize just how vital the early diagnosis of hemoglobin disorders is for managing them. But besides managing these disorders, there are other essential reasons why early diagnosis of hemoglobin disorders is important.
In this article, I'll explain what hemoglobin disorders are and give you 10 tangible reasons why an early diagnosis is important to help determine whether you need pain medications, water therapy, or other management plans.
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What Are Hemoglobin Disorders?
Hemoglobin disorders are rare blood disorders that affect the shape and amount of red blood cells in your body. These conditions also affect the globin components in red blood cells and alter their ability to transport oxygen.
A few examples of hemoglobin disorders include:
- Sickle cell disease
- Beta thalassemia major
- Sickle hemoglobin C disease
- Sickle hemoglobin E disease
These disorders are genetic, meaning children can inherit them from their parents in their recessive forms. Most people carry them without knowing it because there are no visible symptoms.
But, when two carriers give birth, they pass these genes to their offspring, which can lead to noticeable symptoms.
Although some of these disorders have mild symptoms, studies show that most become taxing over the years, as symptoms such as exacerbated pain in the arms, legs, and chest become visible, increasing the need for proper management.
Here are 10 of the most critical reasons why an early diagnosis of hemoglobin disorders is important.
1. Increases Your Chances of Being Cured
People with knowledge of their health status can access clinical trials early enough to treat these disorders completely.
For example, researchers report that while gene therapy can cure hemoglobin disorders like sickle cell anemia and thalassemia, it is more effective in children and young adults.
So, a newborn with early access to clinical trials is more likely to be cured than an adult with access to the same trial. With early diagnosis, the success of these trials may also produce valuable tips that could improve the lifestyle of other affected family members.
2. Determines Your Genetic Compatibility
By understanding your carrier status, you can determine your genetic compatibility with your partner. Genetic compatibility measures how safe it is for couples to reproduce and predicts how healthy their offspring will be.
In terms of genetic compatibility, it’s safer if only one of the partners carries the mutated genes. If both partners carry them, there’s a 25% chance they can pass this disorder to their offspring.
Screening couples for the presence of hemoglobin disorders helps to measure their reproductive risks. With this information, couples can make informed decisions and find ways to prevent the transfer of these conditions to their children. One of these preventive measures includes preimplantation genetic diagnosis (PGD).
If you and your partner both have recessive genes for these disorders and want to have children, it's best to consult a medical professional for advice on mitigating potential reproductive risks.
» Here's how your ancestry and ethnicity can affect your health.
3. Highlights Possible Complications
Early diagnosis of a hemoglobin disorder, especially at the newborn stage, can help you establish a proper treatment plan to identify and manage complications that come with this diagnosis.
Premature babies or babies who are ill may need a blood transfusion to increase their red blood cells. In some cases, babies may also be given medicines to help their bodies produce more red blood cells.
If a newborn is diagnosed with a hemoglobin disorder, parents will be able to find ways to manage any underlying conditions from an early age.
For example, sickle cell anemia can lead to other complications like organ damage, acute chest syndrome, and leg ulcers. But with early diagnosis, you get a heads up about possible complications and an idea of what to do once symptoms appear. This way, children with these disorders can survive to adulthood.
4. Ensures Proper Health Management
An early diagnosis of hemoglobin abnormalities can ensure effective management and treatment. It can also help to determine which natural elements you should add to your diet and how much medical treatment you need.
For example, if you’re diagnosed with iron deficiency disorder, your doctor may tell you to eat more iron-rich foods, like beans and seafood, to boost your immune system naturally.
A medical professional can also prescribe the proper medications for specific infections resulting from hemoglobin disorders.
5. Prevents Infections
Looking through the lens of precision medicine, you’ll see that many diseases today are related to genetics. This is also the case with hemoglobin disorders and their underlying conditions.
Hemoglobin disorders, like sickle cell disease and thalassemia, cause intense pain and repeated infections. But early diagnosis can help to prevent and manage these symptoms.
Through early diagnosis, you can trace the origin of these conditions and, with the help of your medical adviser, find ways to prevent the reoccurrence of any infections. This includes infections such as meningitis, pneumococcal diseases, and salmonella.
6. Tracks Your General Health
With enough information regarding your health status, your healthcare provider can diagnose other blood disorders and help you keep track of your general health.
Early diagnosis can also help you design the ideal lifestyle for you or your family. For example, your doctor may tell you to avoid foods or drinks that block iron absorption, like coffee and eggs.
This way, you know what food and activities to avoid for a better quality of life. You'll also know which diseases you’re susceptible to and will be better equipped to avoid their triggers.
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7. Helps You Monitor and Treat Symptoms
You can link most symptoms associated with hemoglobin disorders to other diseases. A few examples of these symptoms include shortness of breath, fatigue, and muscle weakness.
With early diagnosis, you can trace the cause of these symptoms and treat them based on their severity. But always consult a medical professional first so they can confirm if a hemoglobin disorder is behind these symptoms.
8. Facilitates the Treatment of Delayed Puberty
Sickle cell anemia and thalassemia may cause delayed puberty in a child. If you notice this in your child, there’s a huge possibility that a hemoglobin disorder is behind it, especially after being diagnosed with either of these disorders.
An early diagnosis could facilitate the creation of an ideal treatment plan to help with your child's delayed puberty.
Staying fit and eating a balanced diet can go a long way in helping your child's development. Children with conditions like sickle cell disease need more nutrients than others. So, finding time to talk about your child's diet with a nutritionist should be your first port of call.
9. Determines Your Eligibility to Donate Blood
Your ability to donate blood is not dependent on whether you have conditions like sickle cell anemia or thalassemia. However, you will need a good hemoglobin count, which is only possible if you go for regular checkups and follow your medical adviser's instructions.
Through regular checkups, your doctor will be able to manage your health effectively and diagnose any underlying conditions quickly. These checkups can also tell if you can withstand donating any amount of blood.
For instance, people living with minor thalassemia may be able to donate blood, unlike those diagnosed with severe cases.
10. Prevents Organ Damage
Besides preventing and managing complications, early diagnosis helps prevent organ damage.
For example, excess iron in your blood due to thalassemia can affect the heart and liver. Sickle cell disease can also cause stroke and damage the kidneys, liver, and spleen.
The earlier you get a diagnosis, the quicker you'll be able to curb the side effects of hemoglobin disorders. This will prevent any further damage to vital organs.
Visit your doctor so they can set up the best treatment plan for you. Some people will get pain medications and water therapy, while others may undergo blood transfusions.
It's All About Being Healthy
Early diagnosis of hemoglobin disorders is essential for effectively managing the side effects of these disorders. And while there are many different causes for hemoglobin disorders, some risk factors are related to family history and ancestry.
Thankfully, DNA testing kits, like LivingDNA, can help trace your ancestry, including inheritable disorders in your family tree, while other kits, like 23andMe, can check for wellness and genetic traits.
Having this information available will help you find proper treatment and create the ideal lifestyle for you and your family.
» Not sure where to start? Try these DNA test tips for genetic genealogy beginners.
