Inheritance of hemophilia is in X-linked pattern that is recessive. This is when the gene mutation that results to the X-linked is found on X chromosome. In the cases of males, one alteration of a gene is sufficient to cause the disorder for those who only have a single X chromosome. Males are highly prone to the disorder than the female counterparts. Fathers are not able to pass the X-linked feature to their daughters or sons. However, mothers can pass the gene to both daughters and their sons.
Description of Hemophilia
Hemophilia is a disorder as a result of bleeding that reduces the clotting process. The types of hemophilia are hemophilia A that characterizes people who have low levels in factor eight (FVIII). Hemophilia B contain low levels in factor nine (FIX). People who have the disorder have long periods of bleeding when injured, during tooth extractions or even during surgery. Moreover, severe hemophilia B and A have voluntary joint bleeding. Other symptoms of hemophilia comprise of bleeding in sites such as the brain, soft tissues and the bowel. The bleeding is noticeable when in stool during defecation and harsh pain in limbs or joints (Rosendaal, 2001) .
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The quality of life for individuals having the disorder is poor and worsens with an increase in age for both the parents and their children. On the life expectancy, those with hemophilia B and A live a larger span with less incapacity compared to thirty years back. This is due to the fact that people have access to programs on home infusion, enhanced patient education on hemophilia and prophylactic treatments (Rosendaal, 2001) . The disorder is common for every 1 in almost 4,000-5,000 males have hemophilia A. For hemophilia B, the ratio is 1 in approximately 20,000 males who are newborn. Hemophilia is not ethnic and thus affects any person from any races.
Summary of the Chromosomal Theory of Inheritance.
The theory states that the traits inherited are dominated by genes within the chromosomes conveyed by gametes. The theory asserts that chromosomes usually contain genes. The chromosomes are in pair. Chromosomes are detached during the period of cell division. The chromosomes detach during meiosis. This translates to members of either pairs move to separate cells. Mendelian factors separate also at the creation of the gametes. They detach independently. Hence, the theory states categorically that genes contained in the chromosomes segregate into the gametes during the process of cell division.
How chromosomal abnormalities lead to genetic disorders.
Chromosomal abnormalities are either numerical or structural. Structural abnormalities involve the structure of the chromosome being altered through ways such as deletions, duplications, translocations and inversions. Importantly, deletion occurs when a part of the chromosome is deleted. Duplications happen when there is an extra chromosome added and thus additional genetic material created. Inversion is as a result of chromosome turned over and then reattached and translocations happen when a whole chromosome has moved to another chromosome on the centromere. When any person lacks a chromosome for a given pair- monosomy, and when they have two or more chromosomes- trisomy, then this leads to a genetic disorder. The chromosomal abnormalities lead to a loss or gain in the genetic material. Such levels of imbalances case disruption of important genes, dosage-sensitiveness and the phenotypic results.
Relationship between chromosomes and DNA.
Chromosomes are long chains in cell nucleus comprised of genes made up of the DNA. Genes within the chromosomes have DNA segments with coded chemical information. The DNA refers to the genetic element of cells. The DNA has a chemical substance referred to as the deoxyribonucleic acid. It contains all genetic information in some coded form. Each gene contains genetic data. Many genes within a localized series in close association among binding regulators and proteins form a chromosome. Thus, DNA forms genes when arranged which again are arranged to create chromosomes.
References
Rosendaal, F. R. (2001). Definitions in hemophilia, Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis Factor VII and Factor IX Subcommittee .
