signs and symptom and the characteristics of the inheritance of hemoglobin disorders

 signs and symptom and the characteristics of the inheritance of hemoglobin disorders

A body function of a human being is affected by many factors. One of the factors is the hemoglobin disorders. The hemoglobin is a protein that helps the blood to transport oxygen to various body parts within the body. The hemoglobin disorders will affect the ability of the red blood cells to carry oxygen in the body. Such a situation is caused if the hemoglobin does not form correctly or if one’s body is unable to develop enough hemoglobin. Such condition is also majorly associated with the families’ history. This means the disorder can be passed from the parent to the newborn via the genetic factor. In this paper, I will discuss the signs and symptom and the characteristics of the inheritance of this disease.

Genes are critical in one’s body as it keeps the instructions in the way in which one’s body grows and works. Nowadays, many countries have been carrying test for newborn babies to establish the presence of certain inheritance disorders. Though the statistics have shown that the newborn babies with this disorder survive and many times may have healthier lives, the screening of the newborn is very critical. This helps to give a necessary treatment. It has also shown that such conditions may lead to a severe health problem and even death in a severe case. An excellent example of hemoglobin disorder is sickle cell anemia. It is the most know occurring hemoglobin disorders that affect the red blood cells and its functions.

Overall, the popular young ones have been associated with this sicknesses passed away in their first ten years of life from difficulties. Nevertheless, current crucial improvement has prolonged the average life of the patients and more substantially improved their worth life. The clinical picture has been dramatically advanced in the present days. This has been boosted by the knowledge and the understanding of the aetiology and the mechanism of the anemia. Early diagnosis and adopted new therapeutic approaches have also played a significant role in containing this disease.

There are two types of the hemoglobin disorders; high hemoglobin levels and low hemoglobin levels. The high hemoglobin is caused by the body to make many red blood cells. In such situations, the blood becomes thicker than usual. This very fatal if not treated as it leads to clots of blood, heart attack hence death. In the other hand, a low hemoglobin level is conditions associated with the body making small red blood cells. This condition indicates that somebody has anemia. This form of anemia occurs when the persons lack enough iron.

Functions of the gene linked to hemoglobin disorders

The HBB gene gives directions for manufacturing protein. Beta globin, which is made during the process forms the major component of the hemoglobin found in red blood cells. Ingrown person hemoglobin usually made of 4 protein subunits which are produced from the gene called HBA. Every one of these proteins subunits are bound to iron consisting fragment is known as heme. Every heme consists of an iron particle at its center that is used to link one oxygen fragment. The hemoglobin inside the red blood cells will bind the oxygen fragments in the lungs. Then the cells move via the blood vessels and transport oxygen to the tissues all over the body parts.

Signs and symptoms of the hemoglobin disorder

As mentioned earlier, blood cells are very critical in our body as it helps in the transportation of the oxygen. If the body suffers from the sort of this or shape has many red blood cells, it will result in body hemoglobin disorders. This may become undersupplied or oversupplied or even may ultimately fail. The genetic alteration in oxygen carriage is the leading cause of the conditions. The treatment of these conditions is currently limited. I take sickle cells as an example of hemoglobin disorder to discuss the signs and the symptoms. A person with these conditions may have different sign and symptoms. In a server case, the patient may have organ disappointment. This is because the vessels may block. In these situations, the patient will have organ damage and experience pain mostly in the chest. Other symptoms that may show include:

The patient feels weak. A patient may feel drowsiness and lethargy

Pale yellow skin– This is a sign of anemia whereby the patient shows a lack of enough iron due to low red blood cells in the body.

Fast, irregular heartbeat– Heartbeat is associated with the heart attack. A hemoglobin disorder is a condition of lack of low oxygen or complete failure of blood to transport oxygen to the body parts. This leads to a blood clot and heart attack. In this, a patient may experience irregular heartbeat which is so fatal

Shortness of breath- Due to a lack of oxygen in the blood and lungs, one may have experienced hardship when breathing. This happens in case of low hemoglobin levels.

The types of mutation that results in Hemoglobin disorder

The mutation is an alteration in the nucleotide order of the chromosome. The mutation is grouped into two main categories which influence how a body functions. Mutations can be destructive or supportive. Undesirable alterations may lead to cancer and several gene disorders associated with the mutation. In favourable mutations, it helps in creating the difference in nature by providing alleles which support evolutions. The two main categories include; Gene mutation and chromosome mutation.

Gene mutation

This is an alteration that happens in a sequence that may change the function of the gene. There several types of gene mutation

• Nonsense mutations- This is situations which lead to the change of one’s duo. This change hints the body cells to discontinue manufacturing the protein I the body. As results, the proteins may malfunction or fail.
• Missense mutation- In these mutations results in replacements of amino acid for another protein prepared by a DNA
• Deletion of mutation-This kind of mutations alters the number of the DNA bases by deleting the piece of the gene. A small removal can lead to removing of one few base duos in a gene. In the other hand, many deletions can lead to deleting of the whole gene. This lead the alteration of the function of the resulting protein
• Insertion mutation- This type of gene mutations changes the number of DNA bases by adding a piece of DNA. The impact of such alterations makes the gene not to work correctly.

Chromosome mutation

This is the alteration of the functioning structure of the gene.

Causes of the mutation

A mutation occurs due to the following factors:

Chemical damage in DNA- Some chemicals, drugs and other environmental pollutants affects how our body gene functions. Many drugs work by damaging DNA

Errors in DNA recombination- DNA repositions itself in a process known as recombination. During this process, some errors may occur through different mechanisms. When in the process of the recombination DNA is lost, leading to mutation.

DNA replication- DNA polymerase occurs in a no complementary base into the daughter component though on a rare occasion. The next round of replication, the miss, incorporate support would cause a mutation. However, this also happens in an exceptional case

Treatment

The treatment of Hemoglobinopathies has been an issue over the years. Still, the recent advancement has saved the life of young one and tremendous improvement in terms of treatment have made. The new approaches to therapy and advanced drugs have shaped the disease picture. The introduction of this treatment has intensely reduced infant suffering and even death. Many medicines have shown the ability through various approaches to reenergize the DNA.

Nonetheless, the toxicity of the medicine puts its usage in a limit. Hydroxyurea has only been proved medicine to be used by the patient with this disorder. It is highly suggested for its ability and effectiveness in reducing painful disasters. Since the HU is a mylosuppressive medicine, has been highly recommended for its capacity to minimise leukocyte count and the defeat of swelling. The evidence has also shown that HU upsets the hydration of the red blood cells. Thus a patient who takes HU has less number of mingling reticulocytes and the lower thick cells. Newborn and children who are treated by Hu have shown falls of anemia cases, increased mean cell volume of red blood cells.

Conclusions

Hemoglobin disorders also referred to as hemoglobinopathies are the most shared monogenic disorders that are found in the inhabitants. Its intricacy and the pathophysiologic processes, the sternness and the variety of its clinical appearances show that it’s a challenge for the medicine and science. The increasing know-how about the disorders has facilitated crucial improvements in the healing controlling. Though, is still being associated with raised illness and death. Prevention of new cases for these disorders need will be anticipated. Shortly, more possibilities of cure may be expected as more research on therapies is being carried out.