What Does High Red Blood Cells And High Hemoglobin Mean – Hemoglobin disorders are a group of inherited diseases that affect a person’s red blood cells. Red blood cells pick up oxygen from the lungs and carry it to all tissues in the body. 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 anemia and thalassemia. Some versions of the genes responsible for these diseases also protect against malaria, a deadly parasite carried by mosquitoes. Thanks to natural selection, these genetic variations have become very common in certain regions of the world.
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What Does High Red Blood Cells And High Hemoglobin Mean
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 either.
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The HBB gene, on chromosome 11, codes for the protein beta-globin. Two beta-globin molecules combine with two alpha-globin molecules to form hemoglobin.
The protein hemoglobin makes up an important part of red blood cells. It gives its color to the blood and allows it to transport oxygen. The red comes from hemes, iron-containing molecules found in each globin protein. Heme is necessary for hemoglobin to retain 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 are due to a malfunction of 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 beta-globin protein. Depending on how the beta-globin protein is modified, alleles of this type can cause multiple genetic disorders.
From the perspective of the protein produced, a person’s two HBB alleles are codominant. Beta-globin proteins are made from both alleles and combine randomly to produce hemoglobin.
Usually, people with a healthy HBB allele produce enough healthy beta-globin protein and their red blood cells can do their job. Thus, hemoglobin disorders generally follow an autosomal recessive mode of inheritance: two inactive alleles are required 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 mode of inheritance: only one non-active HBB allele is needed to cause the disorder. A child can inherit the disease directly from an affected parent. Oxygen transport disorders and some forms of beta thalassemia work this way.
High Hemoglobin Count
With certain allele combinations, such as the oxygen transport plus sickle cell allele, or the sickle cell plus beta thalassemia allele, the symptoms of the disease also follow a codominant pattern. The symptoms a person experiences result from the combined effects of the two alleles.
Each person inherits two copies (or alleles) of the Hbb gene, one from each parent. Our red blood cells make proteins from the two alleles and assemble them into hemoglobin. Hemoglobin molecules can include beta-globin of either allele in any combination.
Red bone marrow stem cells divide rapidly, giving rise to all types of blood cells. The Hbb gene is activated in those that will become red blood cells. Once mature, they pass into the bloodstream.
Almost all of the beta globin in the body is found in red blood cells. A few other cell types make the protein beta-globin (and hemoglobin), including cells in the lungs, eyes, and lining of the female reproductive system. But in these cells, beta-globin is not as essential to their function.
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Red blood cells are made from stem cells present in the bone marrow, more precisely in the red bone marrow. As cells mature, genes that code for globin proteins are activated. The cells fill with hemoglobin, the nucleus is pushed out of the cell, and mature red blood cells enter the bloodstream.
Red blood cells live for about 3 to 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 produce another type of hemoglobin, called fetal hemoglobin, which 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 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 are the most abundant cell type in the body. They perform one of the most important functions of the blood: they deliver oxygen to all the tissues of the body.
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The beta-globin protein is essential for the functioning of red blood cells. It combines with alpha-globin to produce hemoglobin, the molecule in red blood cells that carries oxygen. Without healthy beta-globin protein, red blood cells have problems and blood tissues do not function properly.
Depending on the genetic disease 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 offers more details.
Each globin protein contains an iron-containing heme molecule. Heme helps hemoglobin bind to oxygen. For hemoglobin to function properly, beta-globin must interact correctly with heme molecules and with alpha-globin.
Depending on how the beta-globin proteins are affected, hemoglobin disorders can work very differently. The effects of the disorder are directly related to the types of beta-globin proteins a person produces.
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Hemoglobin disorders vary widely from person to person, ranging from mild to life-threatening. And symptoms can appear at any time, from early childhood to adulthood. Although people carrying different HBB alleles can experience very different symptoms, each disorder has defining characteristics. Additionally, people can inherit combinations of HBB alleles that cause disorders with unusual symptoms.
People with beta thalassemia have too few red blood cells. This causes anemia: pale skin, fatigue, loss of breath, slow growth. All tissues in the body receive less oxygen. Anemia causes the body to 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 also have to 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 severe beta thalassemia may also experience toxic effects from iron overload. To obtain the resources needed to produce red blood cells, the body absorbs more iron than usual from food. Extra iron can come from blood transfusions, which some people need to survive.
The defining characteristic of sickle cell disease is the rigid, sickle-shaped red blood cells. These cells get stuck in tiny blood vessels. They block blood flow, depriving delicate tissues of oxygen. Complications include episodes of severe 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, as well as symptoms of anemia. Their red blood cells cycle back and forth between being round (when oxygen levels are high) and sickle-shaped (when oxygen levels are low). This change in shape stresses the cells, giving them a much shorter lifespan: only 7 to 20 days. Some people with sickle cell disease need frequent blood transfusions, which increases their risk of iron overload.
People with oxygen transport disorders usually produce enough red blood cells, although some have mild anemia. The main problem is that the blood tissues provide less oxygen. People may have bluish skin, especially around the lips and fingertips; shortness of breath; and purple or brown colored blood.
Hemoglobin disorders can be very different from person to person. Typically, a person’s symptoms are directly related to the HBB alleles they have, the structure of the beta-globin proteins the alleles code for, and how these proteins affect red blood cells.
HBB alleles are classified based on the type of disease they cause and how the resulting protein functions. For example, light alleles of beta thalassemia encode partially functional beta-globin proteins. And severe alleles either produce no proteins or proteins that don’t work.
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The graph shows the concentration of hemoglobin protein in blood samples from people with different combinations of HBB alleles (who are not receiving treatment). This test alone cannot diagnose a hemoglobin disorder, but it shows how well blood tissues can carry oxygen.
When hemoglobin levels are low, the blood carries less oxygen. The lower the hemoglobin level, 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 proportions of globin proteins produced by a person. And genetic testing, which is often used to confirm a diagnosis, can identify a person’s specific alleles.
A simple test can
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