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Megaloblastic Anemia

Megaloblastic Anemia

 

Megaloblastic Anemia are a heterogeneous group of disorders that share common morphologic characteristics.

  • Erythrocytes are larger & have higher nuclear-to-cytoplasmic ratios compared to normal cells
  • Neutrophils can be hypersegmented
  • Megakaryocytes are abnormal

On the cellular level in megaloblastic cells, the maturation of nucleus is delayed, while cytoplasmic development is normal & is characterized by sizable red blood cells. This malformation causes the bone marrow to produce fewer cells, & sometimes the cells die earlier than the normal 120-day life expectancy. In lieu of being round or disc-shaped, the red blood cells can be oval.

Megaloblastic anemia is an anemia that results from inhibition of DNA synthesis in red blood cell production. When DNA synthesis is impaired, the cell cycle cannot progress from the G2 growth stage to the mitosis (M) stage. This leads to continuing cell growth without division, which presents as macrocytosis.


Sickle cell anemia

Sickle cell anemia

is the most common form of sickle cell disease.

Sickle cell disease is a genetically inherited disorder in which our body makes abnormally shaped sickled red blood cells.

The sickled red blood cells take their name from the fact that they are shaped like a sickle (or a crescent).sickle cell anemia

Difference between normal red blood cells and sickle cells

Normal red blood cells are biconcave discs.

They are elastic so can squeeze and stretch through the blood vessels.

They contain an oxygen carrying pigment called hemoglobin in them.

This pigment is the protein responsible for carrying oxygen bound to it from the lungs to the rest of the body.

The red blood cells in sickle cell anemia are called sickle cells.

They contain an abnormal type of haemoglobin in them called haemoglobin S (HbS).

This is what makes the cell adopt the sickle shape. These sickle cells are stiff and sticky in nature. They are also less elastic so can obstruct the blood vessels cutting the blood supply to different organs of the body.
Normal red blood cells have a lifespan of 120 days and these abnormally shaped cells have a shorter lifespan and die within 10 to 20 days only.

This can actually be beneficial as those with sickle cell trait are resistant to infection by malaria. The red blood cells die before the parasite can complete its lifecycle making these individuals malaria resistant.

Symptoms of sickle cell anemia

1. Anemia:

The shorter lifespan of red blood cells in sickle cell anemia leads to their shortage which causes the symptoms of anemia.

The abnormal haemoglobin can result in many problems with oxygen transportation. It can produce symptoms of anemia like weakness, tiredness, breathlessness and lethargy.

2. Vaso-occlusive crisis:

The obstruction of blood vessels supplying the limbs and organs can also result in pain and inflammation. These episodes of pain are called sickle cell crisis or vaso-occlusive crisis. In a young child, these pain crises are commonly felt in the hand and feet but as the child grows older any area of the body may be affected. The most commonly affected areas are ribs, spine, pelvis, abdomen, sternum and long bones in the legs and arms. These pain crises can last for a couple of minutes to many months although on an average they last from five to seven days.

3. Vulnerability to infection:

This blood flow obstruction can also raise the risk for infection. A child is more vulnerable to infection especially under the age of three years of age. This is because the abnormally shaped cells get trapped in the spleen and disrupt its normal function. Children are most vulnerable to pneumonia, Osteomyelitis and meningitis.

4. Avascuar necrosis:

The bone tissue may undergo cell death or necrosis because of the loss of blood supply. The most common joint for AVN is the hip joint. The first sign can be pain or limp in the groin.

5. Leg ulcers:

These may develop in the legs and feet of children because the feet do not get enough blood supply to keep the skin and surrounding tissues healthy.

6. Delayed growth:

Because the red blood cells can’t provide the oxygen for physical development, the child may experience a development delay too.

7. Jaundice and gall stones:

These may develop because the excessive destruction of the red blood cells may result in excess bilirubin accumulating in the body. This may result in yellow discoloration of the skin and gallstone formation.

Genetics & What causes sickle cell Anemia

Genetics & What causes sickle cell Anemia

Sickle cell anemia is caused by a genetic mutation which affects the normal development of red blood cells.

The mutation that leads to sickle cell anaemia is called a sickle cell trait and it is recessive in nature.

This means that both copies of the genetic material from the mother and the father must be present in order to develop a full blown case of sickle cell anemia.

Having one sickle cell trait does not mean that you have sickle cell anemia.

But if two individuals with a sickle cell trait conceive a child there is a 25% chance that the child will have sickle cell anemia.

This is why sickle cell anemia should be screened with the help of a blood test while the mother is pregnant with the child.
Sickle cell anemia treatment
The treatment of sickle cell anemia can help reduce the frequency and severity of the symptoms of the disease and then prevent the complications that may develop. Hydroxycarbamide can help those suffering from frequent sickle cells crisis as it can lead to the formation of fetal hemoglobin which makes up for the deficit. Over the counter pain killers can be use for pain management. Vaccinations like influenza and hepatitis B vaccination should be used to prevent the risk of infection. Regular blood transfusions may be needed in those suffering from sickle cell anemia too but they should be accompanied by chelation therapy to avoid the risk of iron overload.


Multiple Myeloma Symptoms

Multiple Myeloma Symptoms are caused by plasma cell abnormalities.

Multiple myeloma is a type of cancer which involves the plasma cells in the blood.

Plasma cells are a type of white blood cells in the body which are responsible for making antibodies. These antibodies help your body fight infection.

In multiple myeloma these abnormal cells accumulate in the bone marrow and then interfere with the production of normal red blood cells.multiple myeloma_bone_marrow

What happens in multiple myeloma?

In multiple myeloma, one type of plasma cells called myeloma cells increase in number.

They become cancerous and multiply so that they crowd the normal bone marrow.

These cells crowd the bone marrow where the blood cells in our body are made.

Since these plasma cells also make proteins (antibodies) in our bodies, the level of abnormal proteins in the body might go up too.
Many health problems can be caused by this increased cell count and protein in the body. These can affect your immune system, kidney, blood cells and your bones.

Multiple myeloma symptoms

The signs and symptoms of multiple myeloma can vary from person to person and may worsen as the disease progresses.

Early in the duration of the disease, the disease may not have very obvious signs and symptoms. But as the disease progresses over time, it severity increases. In the later stages one or more of these symptoms may appear:
1. Hypercalcemia: An increase calcium level in the blood is quite characteristic of multiple myeloma. This occurs when myeloma starts to affect the bones and the calcium appears in blood. The signs of hypercalcemia can be very obvious. You may start experiencing thirst, nausea, constipation, loss of appetite and confusion as your calcium levels in your blood go up.
2. Kidney damage: There are certain proteins that accumulate in the blood of a multiple myeloma patient. These abnormal proteins are called M proteins. These are light chain proteins and can damage the kidneys. These proteins are the famous Bence Jones protein commonly associated with multiple myeloma.
3. Fatigue: As the myeloma cells start to crowd the bone marrow, our marrow is unable to produce enough healthy red blood cells. These are the oxygen carrying unit of our body as when our body is deprived of oxygen, symptoms like fatigue may occur.
4. Bone damage: Multiple and frequent fractures can be a very common finding in a myeloma patient. Multiple Myeloma bone damage

 

Multiple myeloma has a propensity to damage the bones by breaking them down and making them weaker.

This type of bone damage is called osteolytic bone damage.

On an xray film, these may appear as punched out lesions.

A common symptom of bone damage is back pain or pain in the pelvis ribs or skull.

Other signs and symptoms of multiple myeloma include:

• Repeated bouts of infections such as pneumonia, sinusitis, bladder, kidney infections, skin infections, and shingles.
• Weight loss
• Weakness and numbness in the legs

Multiple myeloma causes

Although the exact cause of multiple myeloma is not known, researchers have shown that it starts with one plasma cell.

It starts with one abnormal multiple myeloma cell and then it begins to multiply. Because these cells are cancerous, they don’t mature and die like normal cells.

They can multiply rapidly and soon overwhelm the normal production of cells in the marrow. These plasma cells make up less than 5 percent of the cells in bone marrow of a healthy individual. But in a multiple myeloma patient they may make up more than 10 percent of the cells in the marrow.

These cells may circulate in your blood from here far from their site of origin. This uncontrolled growth can damage blood cells, bones and the surrounding tissues in the organs that they reach. Moreover they can inhibit the production of antibodies by your body which can suppress the production of antibodies.

Treatment of multiple myeloma

Multiple myeloma may be symptomless in the earlier stages and you may not need any form of treatment in this case.

Your physician may monitor you for the progression of the disease regularly. If you develop further complications and the disease worsens, you may require treatment.

It can help with the pain, control complications, stabilize the progression of disease and slow it down. There is no known cure for multiple myeloma however some drugs may help halt the progression of this illness. Some drugs approved for treatment of multiple myeloma include thalidomide, bortezomib and lenalidomide.

Chemotherapy for multiple myeloma involves given drugs through the intravenous route or as a pill to kill the cancer cells. Stem cell transplantation and radiation therapy can also offer hopes in halting the progress of this disease.

Your M protein level is monitored regularly and the severity of multiple myeloma symptoms observed to check the progress of the disease.


Megaloblastic anemia treatment

The focus of most Megaloblastic anemia treatment

 

Most regimes focus on giving the patient folate or cobalamin.

Megaloblastic anemia has an increased size of the red blood cells because the substances required for nucleic acid production are not available.

By replenishing these two components, the anemia can be reversed.

The megaloblastic treatment strategies are established according to the duration and severity of anemia that develops.

Usually megaloblastic anemia develops gradually and does not necessarily require blood transfusion as the body adjusts to low levels of haemoglobin over time.

Causes of megaloblastic anemia

Megaloblastic anemia can be caused by either a folate deficiency or vitamin B12 deficiency:

1. Vitamin B12 deficiency ( eventually leads to folate deficiency)
• Achlorhydria: indiced malabsorption
• Deficient dietary intake
• Deficient intrinsic factor in pernicious anemia or gastrectomy
• Celiac disease
• Biological competition e.g Diphyllobothrium latum (fish tapeworm)
• Chronic pancreatitis
• Ileal bypass surgery or resection

2. Folate deficiency:

• Alcoholism
• Deficient dietary intake
• Increased body requirement: pregnancy, infants, and cirrhosis
• Malabsorption
• Intestinal and jejunal resection
• Deficient thiamine and factors (e.g., enzymes) responsible for folate metabolism.
3. Combined Deficiency: vitamin B12 & folate.

 

Cause of Megaloblastic anemia

Megaloblastic anemia is a disorder of the blood obvious by the manifestation of  oversize red blood cells. Anemia is a disorder of the blood that results in the loss of red blood cells.

 Red blood cells transfer oxygen throughout the body; without adequate amounts, organs and tissues suffer due to a lack of oxygen.

In the case of megaloblastic anemia, this disorder is caused by imperfect configuration of the red blood cell resulting in large numbers of immature and partly developed cells. These red blood cells do not function like healthy red blood cells and crowd out the healthy cells, causing anemia. Since these cells are immature, and have a reduced life expectancy.

For information regarding symptons and Megaloblastic Anemia Complications refer to this link.

Megaloblastic anemia treatment

Megaloblastic anemia is a type of anemia which occurs as a result of inhibition of DNA synthesis during red blood cell production. Continued cell growth without cell division causes the cells to develop an enlarged shape.
Treatment guideline for megaloblastic anemia treatment includes dietary therapy which supplementing vitamin B12 and folate in the diet or blood transfusion if the situation demands.
Transfusion therapy should in fact be restricted to patients with severe, uncompensated and life threatening type of megaloblastic anemia.megaloblastic anemia treatment

The treatment guidelines involve these:

• Cobalamin therapy

A parenteral dose of cobalamin (vitamin B12) should be given on a daily basis for duration of two weeks.

The recommended daily dose is 100-1000 µg although a dose of 1000 µg is too large and is required for only a few individuals only. Those individuals who show a more severe degree of neurological impairment should be treated with a more aggressive protocol. Cobalamin can also be administered through an roal dose. T

he recommended range is 1000-2000 µg although the doses and schedules can be varied according to individual requirement. The absorption of cobalamin can be varied in different individuals hence the oral dosages are monitored more strictly.

To avoid these abnormalities in oral cobalamin absorption, it is preferred to give cobalamin parenterally.

It may be a practical strategy to start with parenteral therapy then shift to oral cobalamin. Advantages offered by oral combalamin are that it is less expensive and better tolerated by those undergoing treatment.

In some conditions however like haemophilia, oral treatment is preferred to avoid the risks associated with intramuscular injections.
Serum potassium may fall severely during therapies for folate or cobalamin deficiencies and it should be closely monitored to avoid the risk of comlications. Potassium supplements may be required to avoid this problem

• Folate therapy

Oral administration of folate is also a treatment for megaloblastic anemia.

The recommended dosage is 3-5 mg.

However if there is difficulty in oral administration or compliance, then folate can also be administered parenterally. Folate should especially be administered prophylactically in pregnancy, lactation and shortly after birth.

It not only prevents symptoms of megaloblastic anemia from arising but also helps prevent neural tube effects. Fortification of food and folic acid supplements can have many health benefits.

However there are some opponents to this therapy as it may mask the early signs of anemia due to cobalamin deficiency and it may appear with more serious neurological signs.

Megaloblastic anemia treatment guidelines

It is not recommended to start taking folate supplements until cobalamin deficiency has been ruled out.

This is because administration of folate may correct the symptom of anemia and may have a positive effect on red blood cells but it will not reverse the neurological impairment of cobalamin.

This will allow the neurological complications to progress while the warning signs of anemia are masked. So if megaloblastic anemia is suspected, you should start treatment with both folate and cobalamin.

Checking response to megaloblastic anemia treatment

Although most patients start to feel better soon after the therapy is started, it is best to monitor if the therapy has been truly effective or not.

The elevated level of lactate dehydrogenase (LDH) and indirect bilirubin should drop if the therapy has been effective.

A prolonged increased level of LDH indicates that the therapy has not been effective.
Reticulocytosis( growth of new red blood cells) should be observed in 3-5 days and should reach a peak level in ten days.

The hyper-segmented neutrophils that are a characteristic feature of megaloblastic anemia will take over 10 to 14 days to return to normal.
The haemoglobin level should be tested every week and it should rise with at a rate of 1g/dL per week.

This rise can be used as a useful indicator to monitor response.

If no noticeable change is observed even after 2 months, other causes of anemia should be analyzed.

If megaloblastic anemia treatment does not work, you should suspect iron deficiency as well.

Further information regarding treatment can be found at this post


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