What Is The Cause Of Large Red Blood Cells – Hemoglobin disorders are a group of inherited conditions that affect a person’s red blood cells. Red blood cells pick up oxygen from the lungs and deliver it to all body tissues. In people with hemoglobin disorders, red blood cells are fewer in number, less able to do their job, or both.
The most common hemoglobin disorders are sickle cell disease and thalassemia. Some versions of the genes that cause these diseases also protect against malaria – a deadly parasite carried by mosquitoes. Through natural selection, these gene variations have become very common in certain parts of the world.
- 1 What Is The Cause Of Large Red Blood Cells
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What Is The Cause Of Large Red Blood Cells
The Hbb gene codes for the beta-globin protein. Two beta-globin molecules combine with two alpha-globin molecules to form hemoglobin. If there is a problem with the beta-globin protein, the hemoglobin does not work properly and the red blood cells cannot do their job as well.
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The HBB gene, on chromosome 11, codes for the beta-globin protein. Two beta-globin molecules combine with two alpha-globin molecules to form hemoglobin.
Hemoglobin protein is a major part of red blood cells. It gives blood its color and allows it to carry oxygen. The red comes from heme – iron-containing molecules found within each globin protein. Heme is needed for hemoglobin to carry oxygen.
There are many different versions (alleles) of the HBB gene, each coding for a slightly different beta-globin protein. Some HBB alleles can cause genetic disorders. Each type of beta-globin disorder has a unique set of symptoms, which can range from very mild to life-threatening. In all of these disorders, the symptoms go back to poor hemoglobin, which prevents red blood cells from doing their job.
Too little protein. Some alleles of the HBB gene produce very little or no beta-globin protein. They cause some forms of beta-thalassemia, a genetic disorder in which people have too few red blood cells.
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Altered proteins. Some alleles of the HBB gene encode unusual forms of the beta-globin protein. Depending on how the beta-globin protein is changed, alleles of this type can cause multiple genetic disorders.
From the perspective of the protein being produced, a person’s two HBB alleles are codominant. Beta-globin proteins are made from both alleles and they combine randomly to make hemoglobin.
Usually, people with a healthy HBB allele make enough healthy beta-globin protein and the red blood cells can do their job. Thus, hemoglobin disorders usually follow an autosomal recessive inheritance pattern: it takes two nonfunctioning alleles to cause the disorder, one from each parent. Sickle cell disease and most forms of beta-thalassemia work this way.
However, in some cases, hemoglobin disorders follow an autosomal dominant inheritance pattern: only one non-functioning HBB allele is needed to cause the disorder. A child can inherit the disorder directly from an affected parent. Oxygen transport disorders and some forms of beta-thalassemia work this way.
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With some allele combinations—such as the oxygen transport allele plus sickle cell, or the sickle cell allele plus beta-thalassemia—the symptoms of the disorder also follow a codominant pattern. The symptoms a person experiences are the result of the combined effects of both alleles.
Each person inherits two copies (or alleles) of the Hbb gene – one from each parent. Our red blood cells make proteins from both alleles and combine them into hemoglobin. Hemoglobin molecules can include beta-globin from either allele in any combination.
Stem cells in the red bone marrow divide rapidly, creating all types of blood cells. The Hbb gene turns on in what will become red blood cells. Once they mature, they pass into the bloodstream.
Almost all beta-globin in the body is found in red blood cells. Several other types of cells make the protein beta-globin (and hemoglobin), including cells in the lungs, eyes, and the lining of the female reproductive tract. But in these cells, beta-globin is not so central to their function.
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Red blood cells are made from stem cells in the bone marrow – more specifically, in the red bone marrow. As cells mature, the genes that code for globin proteins are turned on. The cells are filled with hemoglobin, the nucleus is pushed out of the cell, and mature red cells enter the bloodstream.
Red blood cells live for about 3-4 months, then they are recycled. A healthy adult produces 2-3 million red blood cells every second!
People with beta-globin disorders are born healthy. This is because before we are born, we make a different type of hemoglobin – called fetal hemoglobin – that uses different globin proteins instead of beta-globin. Shortly before birth, we switch to the production of beta-globin. These new beta-globin red blood cells gradually replace those of the fetal hemoglobin. Even in the most severe cases, it takes several months for symptoms of a beta-globin disorder to develop.
Red blood cells are the largest component of blood tissue and they are the most abundant type of cell in the body. They perform one of the most important jobs of the blood: deliver oxygen to all tissues of the body.
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The protein beta-globin is essential for red blood cell function. It combines with alpha-globin to make hemoglobin – the molecule in red blood cells that carries oxygen. Without healthy beta-globin proteins, red blood cells have problems and blood tissues do not function properly.
Depending on the genetic disorder and the specific HBB alleles involved, people may experience anemia (too few red blood cells), episodes of pain, organ damage, and/or low oxygen levels throughout the body. The next section provides more details.
Each globin protein carries an iron-containing heme molecule. Heme helps hemoglobin bind to oxygen. In order for hemoglobin to function properly, beta-globin must interact properly with heme molecules and with alpha-globin.
Depending on how beta-globin proteins are affected, hemoglobin disorders can work quite differently. The effects of the disorder are directly related to the types of beta-globin protein a person produces.
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Hemoglobin disorders are extremely variable from person to person, ranging from mild to life-threatening. And symptoms can appear at any time from infancy to adulthood. Although people with different HBB alleles can have very different symptoms, each disorder has defining features. In addition, people can inherit combinations of HBB alleles that cause disorders with unusual sets of symptoms.
People with beta-thalassemia have too few red blood cells. This causes anemia: pale skin, fatigue, shortness of breath, slow growth. All body tissues receive less oxygen. Anemia makes the body work even harder than usual to produce red blood cells. But because these cells are short-lived or don’t mature at all, people with beta-thalassemia must also break down more red blood cells than usual. This can cause jaundice (yellowing of the skin) and stress or damage to the liver and spleen, which do most of the work of recycling blood cells.
People with beta-thalassemia major may also experience toxic effects from iron overload. To get the resources needed to build red blood cells, the body absorbs more iron than usual from food. Additional iron can come from blood transfusions, which some people need to survive.
The defining feature of sickle cell disease is sickle-shaped, rigid red blood cells. These cells get stuck in the small blood vessels. They block blood flow, starving delicate tissues of oxygen. Complications include episodes of intense pain, infection, organ damage and stroke. The most vulnerable tissues are the joints, lungs, kidneys, spleen and brain.
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Many people with this disorder also have too few red blood cells, along with symptoms of anemia. Their red blood cells go back and forth between being round (when oxygen levels are high) and sickle (when oxygen levels are low). This change in shape stresses the cells, giving them a much shorter lifespan – only 7-20 days. Some people with SCD need frequent blood transfusions, which increases the risk of iron overload.
People with oxygen transport disorders usually produce enough red blood cells, although some suffer from mild anemia. The main problem is that blood tissues give less oxygen. People may have blue skin, especially on the lips and fingertips; shortness of breath; and purple or brown colored blood.
Hemoglobin disorders can look very different from person to person. In general, a person’s symptoms are directly related to the HBB alleles they have, the structure of the beta-globin proteins that the alleles code for, and how those proteins affect red blood cells.
HBB alleles are categorized by the type of condition they cause and how well the resulting protein works. For example, beta-thalassemia minor alleles encode beta-globin proteins that are partially functional. And severe alleles either do not produce proteins, or proteins that do not function.
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The graph shows the concentration of hemoglobin protein in blood samples from people with different HBB allele combinations (who are not receiving treatment). This test alone cannot diagnose a hemoglobin disorder, but it does show how well blood tissues can carry oxygen.
When hemoglobin levels are low, the blood carries less oxygen. The lower the hemoglobin, the sicker the person tends to be.
When doctors diagnose a hemoglobin disorder, they also look at the shape and size of the red blood cells. Many diagnostic tests also look at the types and amounts of globin proteins a person makes. And genetic tests, which are often used to confirm a diagnosis, can identify the specific alleles a person has.
A simple test can
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