AASE syndrome refers to a rare inherited disorder, which is characterized by features like anemia along with certain joint or skeletal deformities.
As it is, an inherited disorder denotes an illness, which is caused due to abnormalities in the genes or the chromosomes.
Most of such disorders are rather rare and might affect a person in several thousands or millions of births.
Certain kinds of recessive gene disorder also confer advantages in the heterozygous state, as in case of certain environments.
A haploid cell features only a single set of chromosomes, whereas a diploid cell features two sets of chromosomes.
Now, in case of humans, the somatic cells tend to be diploid, whereas gametes are haploid.
As it is, AASE syndrome is considered to be an autosomal dominant inherited disorder.
An autosome denotes a chromosome of non-sex nature.
It is normally paired, kind of chromosome, which is the same in case of both genders of a species.
So, humans, are featured with 22 pairs of autosomes.
Now, the X and the Y chromosomes are not autosomal in nature.
Non-autosomal chromosomes are generally addressed as sex chromosomes.
As in case of other chromosomes, the autosomes display SNP, as well as STR mutations that may be visualized along with usage in case of genetic testings for ethnicity, ancestry, racial, as well as genealogical purposes.
The genetic basis in case of the disease is unknown.
The anemia is caused due to an underdevelopment in the bone marrow.
That is where the formation of the blood cells takes place.
The syndrome has been named after Jon Morton AASE, who was an American paediatrician.
The symptoms of this disorder include mildly slowed growth, narrow shoulders, pale skin, triple jointed thumbs, along with small or no knuckles, reduced creases of skin at the finger joints, delayed closure of fontanelles, inability to properly extend the joints, droopy eye lids, cleft palate, as well as deformed ears.
As it is, the condition may result in various complications related to anemia, which includes fatigue, weakness, as well as decreased oxygenation of blood.
Now, a decreased count of white blood cells may reduce the capacity of the body in fighting infection.
In case if a heart defect develops, then it may result in multiple complications depending upon specific defects.
Acute cases were related with still birth, as well as early death.
Treatment involves frequent blood transfusions, which are given in first year of life, for the treatment of anemia.
As it is, Prednisone might be administered.
However, this should be avoided, especially in case of infancy due to the potent side effects on growth, as well as brain development.
In some cases, a bone marrow transplant might also be required if other treatments fail.
As it is, an inherited disorder denotes an illness, which is caused due to abnormalities in the genes or the chromosomes.
Most of such disorders are rather rare and might affect a person in several thousands or millions of births.
Certain kinds of recessive gene disorder also confer advantages in the heterozygous state, as in case of certain environments.
A haploid cell features only a single set of chromosomes, whereas a diploid cell features two sets of chromosomes.
Now, in case of humans, the somatic cells tend to be diploid, whereas gametes are haploid.
As it is, AASE syndrome is considered to be an autosomal dominant inherited disorder.
An autosome denotes a chromosome of non-sex nature.
It is normally paired, kind of chromosome, which is the same in case of both genders of a species.
So, humans, are featured with 22 pairs of autosomes.
Now, the X and the Y chromosomes are not autosomal in nature.
Non-autosomal chromosomes are generally addressed as sex chromosomes.
As in case of other chromosomes, the autosomes display SNP, as well as STR mutations that may be visualized along with usage in case of genetic testings for ethnicity, ancestry, racial, as well as genealogical purposes.
The genetic basis in case of the disease is unknown.
The anemia is caused due to an underdevelopment in the bone marrow.
That is where the formation of the blood cells takes place.
The syndrome has been named after Jon Morton AASE, who was an American paediatrician.
The symptoms of this disorder include mildly slowed growth, narrow shoulders, pale skin, triple jointed thumbs, along with small or no knuckles, reduced creases of skin at the finger joints, delayed closure of fontanelles, inability to properly extend the joints, droopy eye lids, cleft palate, as well as deformed ears.
As it is, the condition may result in various complications related to anemia, which includes fatigue, weakness, as well as decreased oxygenation of blood.
Now, a decreased count of white blood cells may reduce the capacity of the body in fighting infection.
In case if a heart defect develops, then it may result in multiple complications depending upon specific defects.
Acute cases were related with still birth, as well as early death.
Treatment involves frequent blood transfusions, which are given in first year of life, for the treatment of anemia.
As it is, Prednisone might be administered.
However, this should be avoided, especially in case of infancy due to the potent side effects on growth, as well as brain development.
In some cases, a bone marrow transplant might also be required if other treatments fail.
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