Garcia 1

Zaret Garcia
Biology
Fergurson/Baker
12-06-2019
 
Specific Human Genetic Disease 
Sickle cell anemia   

A genetic disease is a change in the letters of DNA sequences which changes a gene away

from its normal path, known as a mutation. A birth defect is a problem when a baby is

developing in utero or womb. It could come to appearance with organ functions, physical &

mental development.

An environmental birth defect is when the mother has any type of infections during her

pregnancy or even if the mother drinks too much alcohol or takes certain medicines. Genetic

inheritance is the process by which the genes are passed down to one parent to offspring and one

way this happens is by the single gene-pair inheritance. A single gene-pair inheritance happens

when the trail is linked to only one gene-pair that has 2 alleles. A alleles are one out the possible

form genes, when there is usually 2 a dominant alleles & recessive alleles.

There are many types of chromosomal abnormalities which can be defined as structural or

numerical. This can occur when the sperm or egg is develops in the early stages of the futes, also

the age of the mother or environmental factors can make this genetic errors happen. These

chromosomal abnormality may have different effects, it just depends on the abnormality. It could

also cause miscarriage, disease or even growth development. One of the most common

chromosomal abnormalities is known as aneuploidy.

Multifactorial inheritance means that many factors can cause birth defect weather is genetic or

environmental. When the combination of both parents genes is affected by an environment cause
it creates a trait or condition, usually one gender is more likely to be affected by this then the

other doesn't matter if it”s male or female. And there’s a chance that one gender will show the

problem more than the other gender. ​Multifactorial traits recur in families because they are partly

caused by genes. The chance for a multifactorial trait or condition to happen again depends upon

how closely you are to a family member and the trait.

The disease I picked was sickle cell anemia it’s based on the autosomal recessive inheritance

because both of the copies gene cell have mutations. The parents of the kid with this condition

will carry a copy of the mutated gene but will not show signs or symptoms of the condition.

Sickle cell disease is a group of disorders that affects ​hemoglobin​, the molecule in red blood

cells that delivers oxygen to cells throughout the body. People with this disorder have atypical

hemoglobin molecules called hemoglobin S, which can distort red blood cells into a ​sickle​, or

shape.

Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic

features of this disorder include a low number of red blood cells (​anemia​), repeated infections,

and periodic episodes of pain. The severity of symptoms varies from person to person. Some

people have mild symptoms, while others are frequently hospitalized for more serious

complications.​Some signs and symptoms of sickle cell disease are caused by the sickling of red

blood cells. When red blood cells sickle, they break down prematurely, which can lead to

anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in

children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin,

which are signs of jaundice.

 Some of the cause of sickle cell anemia is HBB this provides instructions for making

beta-globin. ​People with sickle cell disease have at least one of the beta-globin subunits in

hemoglobin replaced with hemoglobin S. In sickle cell anemia, which is a common form of

sickle cell disease the hemoglobin S is replaced with both beta-globin subunits in hemoglobin. In

other types of sickle cell disease, just one beta-globin subunit in hemoglobin is replaced with

hemoglobin S.

​Sickle cell disease affects millions of people worldwide. It’s most common among people

whose ancestors come from Africa, Mediterranean countries such as Greece, Turkey, and Italy.

The Arabian Peninsula, India, and Spanish-speaking regions in South America, Central America,

and parts of the Caribbean. Sickle cell disease is the most common inherited blood disorder in

the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in

500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans