Explore rare types of anemia and their implications with Meri Sehat. Gain insights for effective management and well-being.

Rare Types of Anemia

Anemic refers to the state of being affected by anemia, which is a medical condition characterized by a deficiency in red blood cells or hemoglobin.

Introduction

If you&#39;ve ever felt like a deflated balloon after climbing a flight of stairs or found yourself nodding off during an important meeting, you might be familiar with the telltale signs of anemia. But don&#39;t worry, there&#39;s no need to break out the iron supplements just yet!

There are several different forms of<a href="https://merisehat.pk/disease/anemia"> anemia</a> and there are many possible causes and treatments for this condition. 
&nbsp;

Anemic refers to the state of being affected by anemia, which is a medical condition characterized by a deficiency in red blood cells or hemoglobin. When you have anemia, your body doesn&#39;t produce enough healthy red blood cells to supply your tissues with enough oxygen. Being anemic, or having low hemoglobin, can make you feel exhausted and frail.&nbsp; 
&nbsp;

According to WHO statistics, 40% of pregnant women and 42% of children under the age of 5 worldwide are particularly affected by anemia.<a href="#accordion">[4]</a>

The condition affects different people in different ways.<a href="#accordion">[1]</a>

<ul>
	<li>Newborns: Some newborns have low red blood cell count at birth. Most newborns with anemia don&#39;t require medical attention, but others may require blood transfusions if their anemia is severe.</li>
	<li>Infants: When infants begin eating solid food, they do not get as much iron as they require. This is due to the fact that iron in solid food isn&#39;t as quickly absorbed as iron in breast milk or infant formula. Infants with anemia&nbsp;will be lethargic.</li>
	<li>Children: From birth until age 2, children grow significantly and hence mothers&nbsp; prioritize drinking milk and also increasing the quantity of milk as their children grow. Although milk is a beneficial source of calcium and vitamin D, excessive consumption can lead to a potential risk of iron deficiency anemia in children, as milk lacks sufficient iron content and hampers the absorption of iron from other food sources. However growing children do require extra iron. If they have anemia, they&nbsp;may experience growth-related challenges, such as&nbsp;delayed motor skill development and learning difficulties. Hence the best option is to consult your local health care provider to understand the correct amounts of milk and iron required in the different developing stages by your little one.</li>
	<li>Pregnant Women: Iron-deficiency anemia can occur in pregnant women, which can increase the risk of issues, including premature birth or giving birth to babies who are underweight. Iron deficiency anemia is different from physiological anemia of pregnancy. In a typical pregnancy, the plasma volume expands more significantly compared to the increase in the red cell mass. This leads to a condition known as the physiological anemia of pregnancy, where there is dilution of blood, resulting in anemia.</li>
	<li>Females: Anemia can result from blood loss in women who experience heavy menstrual bleeding or medical disorders like uterine fibroids.</li>
	<li>Elderly People: Adults who are 65 and above are more prone to anemia because they are more likely to have iron-deficient diets. Moreover, they suffer from certain chronic conditions. As a result, they can experience heart problems or weakness that makes it difficult for them to move around if they develop anemia. </li>
	<li>People With Chronic Illnesses: Anemia may be more common in people with certain long-term illnesses, like cancer or autoimmune diseases. This is known as anemia of chronic disease (also known as Anemia of inflammation). 
	&nbsp;</li>
</ul>

Understanding Rare Types of Anemia

<ol>
	<li>
	<h5>Aplastic (Or Hypoplastic) Anemia</h5>
	</li>
</ol>

Aplastic anemia occurs when the stem cells in your bone marrow are damaged and cannot produce sufficient blood cells. You can either inherit it or acquire it; the acquired type is more common but potentially temporary.

Causes

<ul>
	<li>Autoimmune conditions, like rheumatoid arthritis or lupus</li>
	<li>Exposure to chemicals, such as arsenic, pesticides, and benzene</li>
	<li>Infections, such as HIV, Epstein-Barr virus, and hepatitis</li>
	<li>Chemotherapy and radiation for cancer</li>
	<li>Fanconi anemia </li>
	<li>Shwachman-Diamond syndrome</li>
	<li>Diamond Blackfan anemia</li>
</ul>

Symptoms

<ul>
	<li>Dizziness</li>
	<li>Shortness of breath</li>
	<li>Headache</li>
	<li>Chest pain</li>
	<li>Pale skin</li>
	<li>Fast heart rate</li>
	<li>Cold feet and hands</li>
</ul>

Treatment&nbsp;

Blood transfusion is one method of treating aplastic anemia. Aplastic anemia can also be treated with a stem cell transplant, which replaces your bone marrow&#39;s damaged stem cells with healthy ones. 
&nbsp;

<ol start="2">
	<li>
	<h5>Sideroblastic Anemia </h5>
	</li>
</ol>

Your body is unable to utilize iron to produce hemoglobin, the protein that transports oxygen throughout your body. Sideroblasts, which are abnormal red blood cells, are produced as a result of iron accumulation.

Causes

<ul>
	<li>Exposure to drugs or certain chemicals</li>
	<li>Normal hemoglobin production is disrupted by mutation of the gene responsible for producing &ldquo;heme&rdquo; that is part of hemoglobin </li>
</ul>

Symptoms

<ul>
	<li>Headache</li>
	<li>Chest pain</li>
	<li>Fast heartbeat</li>
	<li>Trouble breathing</li>
	<li>Fatigue and weakness</li>
</ul>

Treatment

&nbsp;Depending on the etiology, sideroblastic anemia requires different treatments. Additionally, bone marrow or stem cell transplants and vitamin B6 therapy are available as treatments. 
&nbsp;

<ol start="3">
	<li>
	<h5>Myelodysplastic Syndromes</h5>
	</li>
</ol>

Myelodysplastic syndromes (MDS) are conditions brought on by damaged bone marrow. MDS is a form of cancer.

Causes

<ul>
	<li>It&rsquo;s congenital, especially if you have certain genetic syndromes, such as Fanconi anemia, Shwachman-Diamond syndrome, Diamond Blackfan anemia, familial platelet disease, and severe congenital neutropenia</li>
	<li>Prior treatment with chemotherapy or radiation therapy</li>
	<li>Exposure to compounds like benzene, which is present in cigarette smoke</li>
</ul>

Symptoms

<ul>
	<li>Bleeding or bruising</li>
	<li>Fever</li>
	<li>Infection</li>
	<li>Fatigue and weakness</li>
	<li>Weight loss</li>
	<li>Shortness of breath</li>
</ul>

Treatment 
Hematologists (blood doctors) and oncologists (cancer doctors) will treat your MDS using chemotherapy, hematopoietic growth factor, bone marrow, or stem cell transplants. 
&nbsp;

<ol start="4">
	<li>
	<h5>Autoimmune Hemolytic Anemia</h5>
	</li>
</ol>

The condition is known as autoimmune hemolytic anemia when your body&#39;s immune system attacks and eliminates red blood cells more quickly than it can produce new ones. 

Causes

<ul>
	<li>Autoimmune disorders, like lupus</li>
	<li>Medications, including quinine (Qualaquin), penicillin, and methyldopa (Aldomet)</li>
</ul>

Symptoms

<ul>
	<li>Pale skin</li>
	<li>Fast heartbeat</li>
	<li>Backache</li>
	<li>Trouble breathing</li>
	<li>Yellow skin (jaundice)</li>
	<li>Chills​​​​​​​</li>
</ul>

​​​​​​​Treatment

Treating the underlying condition that led to your anemia can help stop the damage to your red blood cells. Your doctor may also prescribe steroids to suppress your immune system if you have an autoimmune condition.​​​​​​​ 
&nbsp;

<ol start="5">
	<li>
	<h5>Congenital Dyserythropoietic Anemia (CDA)</h5>
	</li>
</ol>

A group of hereditary anemias known as CDA lowers your body&#39;s supply of healthy red blood cells. Types 1, 2, and 3 of CDA are the three different types. Type 2 is the most prevalent, while type 3 is the least common.

Causes

Every CDA is inherited.

Symptoms

<ul>
	<li>Fatigue</li>
	<li>Anemia</li>
	<li>Yellow eyes and skin (jaundice)</li>
	<li>Chronic anemia</li>
	<li>Pale skin</li>
	<li>Missing toes and fingers at birth​​​​​​​</li>
</ul>

​​​​​​​Treatment 
Some patients never require medical care. However, depending on the severity of your disease, your doctor may advise a blood transfusion, stem cell transplant, medications to lower iron levels, or interferon alfa-2A (a medication normally used to treat leukemia and melanoma). 
&nbsp;

<ol start="6">
	<li>
	<h5>Diamond-Blackfan Anemia&nbsp; </h5>
	</li>
</ol>

In Diamond-Blackfan anemia (DBA), your bone marrow does not produce enough red blood cells. DBA can manifest with various physical characteristics or features, such as facial abnormalities, delays in growth, and abnormalities in the upper limbs.

Causes 

<ul>
	<li>Doctors think that a change in your genes is what causes this anemia.</li>
</ul>

Symptoms

<ul>
	<li>Fatigue</li>
	<li>Fast heartbeat</li>
	<li>Heart murmur</li>
	<li>Pale skin</li>
	<li>Irritability</li>
	<li>Short height</li>
	<li>Weak bones</li>
	<li>Sleepiness​​​​​​​</li>
</ul>

​​​​​​​Treatment 
Everything from steroids, which can help in the production of more red blood cells, to red blood cell transfusions and bone marrow transplants can be used to treat Diamond-Blackfan anemia. 
&nbsp;

<ol start="7">
	<li>
	<h5>Megaloblastic Anemia</h5>
	</li>
</ol>

Your bone marrow creates improperly formed red blood cells that are too big and too immature when you have megaloblastic anemia. They can&#39;t effectively transport oxygen throughout your body since they aren&#39;t fully developed or healthy.

Causes

<ul>
	<li>Deficiency in vitamin B9 (folate) or vitamin B12 (cobalamin)</li>
</ul>

Symptoms

People with megaloblastic anemia may not have symptoms for years. However, symptoms which people with the condition might experience are :

<ul>
	<li>Fatigue or dizziness</li>
	<li>Nausea</li>
	<li>Diarrhea</li>
	<li>Irregular or fast heartbeat</li>
	<li>Pale skin</li>
	<li>Muscle weakness or pain</li>
	<li>Trouble breathing</li>
</ul>

Treatment

Vitamin B12 and vitamin B9 supplements are used to replenish your body. An underlying condition, such as Crohn&rsquo;s, would also need to be treated if it caused the vitamin deficiency in your body. 
​​​​​​​

<ol start="8">
	<li>
	<h5>Fanconi Anemia </h5>
	</li>
</ol>

Fanconi anemia makes your bone marrow produce fewer blood cells than required.Diagnostic features may include physical abnormalities such as the absence of a thumb and other deformities. 

Causes

<ul>
	<li>Gene mutation</li>
</ul>

Symptoms

<ul>
	<li>Fatigue</li>
	<li>Abnormal thumbs</li>
	<li>Easy bleeding and bruising</li>
	<li>Skin color changes</li>
	<li>Small head, body, and eyes</li>
	<li>Frequent infections</li>
	<li>Bone, kidney, and heart problems</li>
</ul>

​​​​​​​Treatment 
The severity of the physical consequences and the stage of the disease will both influence the course of your treatment. Hormone therapy and growth factors can be used as treatments to promote blood cell growth. Your doctor may also advise a bone marrow stem cell transplant if your symptoms worsen. A bone marrow transplant frequently eliminates all issues. 
​​​​​​​

Diagnosing rare types of anemia can be challenging&nbsp; and will require multiple testing for a conclusive diagnosis.

Some steps that can be taken to diagnose rare types of anemia are:

<ul>
	<li>Obtain A Detailed Medical History: This can help identify potential underlying causes of anemia, such as genetic disorders or other medical conditions.</li>
	<li>Perform A Physical Exam: Your healthcare provider will look for signs of anemia, such as pale skin or mucous membranes, and listen for abnormal heart sounds. While these are general examination findings that can be associated with any type of anemia, healthcare providers also assess specific signs related to different types of anemia during the examination. For instance, they may look for signs such as the absence of a thumb or other specific indicators to help identify the particular type of anemia.</li>
	<li>Conduct Laboratory Tests: These may include a complete blood count (CBC), which measures the number and types of blood cells, and a peripheral blood smear, which can help identify abnormal cell shapes or sizes. 
	&nbsp;</li>
</ul>

Additional tests, including endoscopy, colonoscopy, and ultrasound, may be needed if your doctor suspects any underlying condition to be the cause of anemia.

<ul>
	<li>Consider Genetic Testing: In some cases, rare forms of anemia may be caused by genetic mutations. Genetic testing can help identify these mutations and provide more information about the underlying condition.</li>
	<li>Consult With a Hematologist: Hematologists are specialists in blood disorders and may have more experience with rare forms of anemia. They can help diagnose your condition and recommend appropriate treatment options.</li>
</ul>

It&#39;s important to note that diagnosis of rare types of anemia may require consultation with multiple healthcare professionals and may involve more advanced testing methods. Therefore, it&#39;s crucial to seek medical attention and work closely with your healthcare provider to identify the underlying cause of your anemia. 
&nbsp;

<h5>Can I Prevent Anemia?</h5>

Some types of anemia, like sickle cell, hemolytic, and aplastic anemia, cannot be prevented. If you have a chronic illness that makes you susceptible to anemia, then you should keep an eye out for its symptoms.

Meanwhile, a nutritious diet can help prevent&nbsp;nutritional anemias. Some iron-rich foods are:<a href="#accordion">[3]</a>

<ul>
	<li>Beans</li>
	<li>Peas</li>
	<li>Seafood</li>
	<li>Red meat</li>
	<li>Iron-fortified bread, cereals, and pasta</li>
	<li>Dry fruits, like apricots and raisins</li>
	<li>Dark green leafy vegetables, like spinach</li>
</ul>

A Quick Tip: Iron is better absorbed in the presence of vitamin C! You can pair up an iron-rich meal with a glass of orange juice for better results. 
&nbsp;

<h5>Preventing Anemia in Babies</h5>

Breast milk or iron-fortified formula can prevent iron deficiency anemia in your baby. However, cow&rsquo;s milk is not a good source of iron for newborns. Hence, it is not recommended for them.

To increase iron consumption, you can give your baby iron-fortified cereals or pureed meals after 6 months of age. Make sure they don&#39;t consume more than 20 ounces (591 ml) of milk per day after the age of 1. Too much milk frequently replaces other foods, such as those high in iron.<a href="#accordion">[3]</a> 
&nbsp;

Conclusion

In conclusion, rare types of anemia may sound intimidating, but don&#39;t worry you&#39;re not alone! With the help of early intervention, modern medicine, and the support of loved ones, many people with rare forms of anemia are able to live happy and fulfilling lives. 
&nbsp;

Key Takeaways

<ul>
	<li>When you have anemia, your body doesn&#39;t produce enough healthy red blood cells to supply your tissues with enough oxygen.</li>
	<li>Diagnosing rare types of anemia can be challenging.</li>
	<li>Aplastic anemia occurs when the stem cells in the bone marrow are damaged and cannot produce sufficient blood cells</li>
	<li>Sideroblasts, which are abnormal red blood cells, are produced as a result of iron accumulation.</li>
	<li>Myelodysplastic syndromes (MDS) are conditions brought on by damaged bone marrow.</li>
	<li>A group of hereditary anemias known as CDA lowers your body&#39;s supply of healthy red blood cells. </li>
	<li>In Diamond-Blackfan Anemia, your bone marrow does not produce enough red blood cells.</li>
	<li>Your bone marrow creates improperly formed red blood cells that are too big and too immature when you have megaloblastic anemia.</li>
	<li>Fanconi anemia makes your bone marrow produce fewer blood cells than required.</li>
	<li>Iron is better absorbed in the presence of vitamin C! You can pair up an iron-rich meal with a glass of orange juice for better results.|</li>
</ul>

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