Mijaro, Mikaela Alexandra T.

BSN 1-2

Hereditary and Biological Factors Affecting Health

NR-NUR111: Theoretical Foundations of Nursing
Finals: Written Report

Introduction
A person’s family health history is one of the strongest factors to consider in looking at
possible causes of health complexes—including cancer, cardiovascular diseases, diabetes,
autoimmune disorders, and even psychiatric illnesses— as it is a good predictor of the risk of
diseases based on the familial genomic and environmental interactions. Aside from the cultural
and socioeconomic knowledge gained from the person’s parents, he or she also inherits their
set of genes (Hernandez & Blazer, 2006).

On the other hand, biological factors in health refer to inherent physical and genetic traits
that influence a person’s overall well-being. These include age, sex, race, and genetic
conditions, along with elements like brain chemistry, hormone levels, and body functioning.
These factors are largely fixed and can significantly impact health outcomes, such as the
likelihood of developing specific diseases like sickle cell anemia, which is linked to genetic
inheritance (Kyruus Health & By Kyruus Health, 2024).

Understanding how genetic inheritance and biological factors influence the overall health
outcome of a person is crucial as it both plays a significant role in determining the person's
predisposition to health conditions. This information allows healthcare providers to predict risks,
offer personalized prevention strategies, and tailor treatments.

Hereditary Factors Affecting Health

Based on Hernandez and Blazer (2006), it is explained that traits and health risks are
passed down through DNA, which is structured into genes and chromosomes. Chromosomes
carry multiple genes, each of which codes for specific traits or processes in the body. Parents
pass one set of chromosomes to their offspring, and this genetic inheritance influences both
observable traits (e.g., eye color) and potential health risks (e.g., susceptibility to diseases).
Environmental factors also interact with these genetic predispositions, influencing how traits and
risks manifest.

1. Role of DNA:
● DNA (Deoxyribonucleic Acid) is the molecule that contains the genetic
instructions for building and maintaining an organism.
● DNA sequences determine the traits inherited by offspring, as they encode
proteins and regulate biological processes.
2. Role of Genes:
Mijaro, Mikaela Alexandra T. BSN 1-2

● Genes are segments of DNA that code for specific proteins or perform regulatory
functions.
● Each parent passes a set of genes to their child. Variations or mutations in genes
can influence traits and predispose individuals to health risks, such as diseases
(e.g., sickle cell anemia or breast cancer with BRCA1/BRCA2 mutations).
● Genetic variation within families directly contributes to health risks and the
expression of traits.
3. Role of Chromosomes:
● Chromosomes are structures within cells that organize and carry.
● Humans typically have 23 pairs of chromosomes, with one set inherited from
each parent.
● Specific genetic disorders are linked to anomalies in chromosomes or mutations
in specific locations, as seen in conditions like familial hypercholesterolemia.
4. Role of Family Medical History

A person’s family medical history can also be a significant indicator of genetic

predispositions to certain conditions due to the inheritance of genetic material and shared
environmental factors among family members.

a. Genetic Inheritance of Risk Factors:

● Each person inherits a complete set of genes from their parents. These genes
carry variations, some of which may predispose individuals to certain diseases.
● Diseases like cancer, cardiovascular disease (CVD), diabetes, and psychiatric
disorders often run in families due to inherited genetic risk factors.
b. Predictive Value:
● Family history is a strong predictor of an individual’s risk for common disease
complexes. This is because it reflects the combined effects of unique genetic,
environmental, and lifestyle factors shared within families.
● For instance, specific mutations (e.g., BRCA1/BRCA2) linked to familial forms of
breast cancer can indicate an elevated risk for certain cancers.
c. Mendelian and Complex Patterns:
● Some conditions follow clear Mendelian inheritance patterns (e.g., autosomal
dominant or recessive), making it easier to trace the genetic link through
generations.
● Others involve polygenic and multifactorial models, where many genes and
environmental factors interact. Family history can still reveal patterns of
clustering, indicating underlying genetic contributions.
d. Research and Heritability Studies:
● Studies of family history often look for familial aggregation, where certain
diseases are more prevalent in relatives of affected individuals compared to the
general population.
● Twin studies and family-based research help estimate heritability, which is the
proportion of disease risk attributable to genetic variations. These studies support
the predictive role of family medical history.
e. Gene-Environment
Mijaro, Mikaela Alexandra T. BSN 1-2

● Family medical history not only reflects inherited genetic traits but also shared
environmental exposures and behaviors (e.g., diet, stress).
● This can modify the risk associated with genetic predispositions, making family
history a comprehensive risk indicator.

CLASSIFICATION OF HEREDITARY/GENETIC DISORDERS

Chromosomal Disorders
● Caused by abnormalities in chromosome
number or structure.
● Common numerical disorders include
trisomy 21 (Down syndrome), resulting
from an extra chromosome 21.
● Structural abnormalities include deletions,
duplications, or translocations, such as in
cri du chat syndrome (deletion on
chromosome 5).
● These disorders can lead to physical
malformations, intellectual disabilities, or
pregnancy loss.

Single-Gene Mendelian Disorders ● Involve mutations in a single gene,

following predictable inheritance patterns
(autosomal dominant, autosomal
recessive, or sex-linked).
● Examples:
○ Autosomal dominant: Huntington’s
disease.
○ Autosomal recessive: Cystic
fibrosis, sickle cell
○ Sex-linked: Hemophilia (X-linked
recessive).

Single-Gene Non-Mendelian Disorders ● Caused by mutations in single genes but

do not follow classic Mendelian
inheritance patterns.
● Examples: conditions influenced by
mitochondrial inheritance or trinucleotide
Mijaro, Mikaela Alexandra T. BSN 1-2

repeat expansions, such as Fragile X

syndrome.

Multifactorial Disorders ● Result from the interaction of multiple

genes and environmental factors.
● Examples:
○ cardiovascular disease
○ diabetes
○ some cancers

COMMON HEREDITARY/GENETIC DISORDERS

Albinism
Albinism is a genetic
condition characterized by
little or no melanin in the
skin, hair, and eyes, affecting
all racial and ethnic groups
globally. Individuals with
albinism often have
pinkish-white skin, white hair,
and light-colored eyes, with
poor vision being a common
feature. However, albinism
does not impact general
health, intelligence, or
lifespan.
Mijaro, Mikaela Alexandra T. BSN 1-2

Angelman
Syndrome Angelman syndrome is a
genetic disorder caused by a
missing or faulty UBE3A
gene. It leads to severe
intellectual disability, delayed
development, minimal
speech, and frequent
laughter or smiling. Diagnosis
is typically made through
DNA microarray testing.
While there is no cure,
therapies can help improve
the quality of life for those
affected.

Ankylosing
Spondylitis (AS) Angelman syndrome is a
genetic disorder caused by a
missing or faulty UBE3A
gene. It leads to severe
intellectual disability, delayed
development, minimal
speech, and frequent
laughter or smiling. Diagnosis
is typically made through
DNA microarray testing.
While there is no cure,
therapies can help improve
the quality of life for those
affected.

Apert Syndrome
Apert syndrome is a rare
genetic disorder present at
birth, characterized by early
closure of skull sutures
(craniosynostosis), webbed
fingers or toes, and
distinctive facial features. It is
typically diagnosed at birth
based on physical traits, and
severity varies. Corrective
surgery is often
recommended.
Mijaro, Mikaela Alexandra T. BSN 1-2

Charcot-Marie-Too
th Disease (CMT) Charcot-Marie-Tooth disease
(CMT) is a group of genetic
disorders affecting the
nervous system, with family
history as the primary risk
factor. It is a progressive
condition, but therapies can
help manage symptoms as
there is no cure.

Congenital
Adrenal Congenital adrenal
Hyperplasia hyperplasia (CAH) is an
inherited condition that
affects the adrenal glands,
often causing an imbalance
in hormone production.
People with CAH typically
produce too many androgens
(male sex hormones) and not
enough cortisol and
aldosterone. There are two
main types: classical CAH,
which is more severe, and
non-classical CAH, which is
milder. Symptoms of classical
CAH include abnormal
genital development, poor
weight gain or weight loss,
dehydration, and vomiting.
CAH can be managed with
medications, including
synthetic cortisol, to help
regulate hormone levels.
Mijaro, Mikaela Alexandra T. BSN 1-2

Cystic Fibrosis
(CF) Cystic fibrosis (CF) is a
genetic disease affecting the
lungs and digestive system,
caused by inherited gene
mutations. There is currently
no cure for CF.

Down Syndrome
A genetic condition, not an
illness or disease. It occurs
when a person has an extra
copy of chromosome 21 in
their cells. There are three
types of Down syndrome:

1. Trisomy 21: The most

common form, where
individuals have three
copies of
chromosome 21 in
every cell, instead of
the usual two.
2. Translocation Down
syndrome: part or all
of an extra
chromosome 21
attaches to another
chromosome.
3. Mosaic Down
syndrome: when
some cells have the
usual two copies of
chromosome 21, and
others have three.
Mijaro, Mikaela Alexandra T. BSN 1-2

Duchenne
Muscular Duchenne muscular
Dystrophy dystrophy (DMD) is a genetic
condition that gradually
weakens muscles, affecting
movement and daily
activities. It primarily affects
male children, though female
children can occasionally be
affected. DMD is caused by a
mutation in the gene
responsible for producing
dystrophin, a protein vital for
muscle strength and repair.
Parents may notice delays in
physical milestones, frequent
falls, clumsiness, and walking
on toes. Diagnosis typically
involves blood tests, genetic
tests, and sometimes a
muscle biopsy.

Ehlers-Danlos
Syndrome Ehlers-Danlos syndrome
(EDS) is a group of 13
genetic conditions affecting
the joints, skin, and blood
vessels. Common symptoms
include flexible or
“double-jointed” joints and
stretchy or fragile skin,
although each type has
unique symptoms. There is
no cure for EDS, but
treatments are available to
manage symptoms and
complications. Genetic
testing can diagnose most
types of EDS, except for
hypermobile EDS (hEDS),
which is diagnosed based on
symptoms, physical
examination, and medical
history.
Mijaro, Mikaela Alexandra T. BSN 1-2

Fabry Disease
Fabry disease is a rare
genetic condition where a
type of fat builds up in cells,
damaging organs. Symptoms
typically begin in childhood
and include pain, skin
rashes, diarrhea,
constipation, and eye
problems. In adulthood,
kidney, heart, and
neurological issues can also
develop. Diagnosis is made
through blood tests and/or
genetic tests. While there is
no cure, treatments are
available to help relieve
symptoms.

Fragile X
Syndrome Fragile X syndrome is an
inherited condition that
causes intellectual disability
along with physical,
behavioral, and emotional
symptoms such as learning
difficulties, movement and
communication problems,
anxiety, and autism. Males
are typically more affected
than females. While there is
no cure, treatments are
available to manage
symptoms. Carriers of Fragile
X usually show no symptoms
but can pass the condition to
their children.
Mijaro, Mikaela Alexandra T. BSN 1-2

Haemochromatosi
s Haemochromatosis is an
inherited condition that
causes the body to absorb
and store too much iron. In
some individuals, the excess
iron can lead to organ
damage.

Haemophilia
Haemophilia is an inherited
bleeding disorder that affects
the blood’s ability to clot,
making it difficult to control
bleeding. The severity of the
condition varies, with some
individuals experiencing mild
symptoms and others being
more severely affected.
Common symptoms include
easy bruising, large bruises,
and excessive bleeding from
surgery or menstruation.
While there is no cure for
haemophilia, medical
treatments can help control
heavy bleeding.

Huntington's
Disease Huntington’s disease is an
inherited condition that
affects the nervous system,
caused by a faulty gene. The
most noticeable physical
symptom is chorea, which
involves rapid, involuntary
Mijaro, Mikaela Alexandra T. BSN 1-2

movements of the fingers,

limbs, or facial muscles.
Other symptoms include
cognitive issues,
impulsiveness, and difficulty
communicating. There is
currently no cure or effective
treatment for Huntington’s
disease.

Klinefelter
Syndrome Klinefelter syndrome is a
congenital condition where
males are born with one or
more extra X chromosomes.
Young children with this
syndrome may experience
motor and language delays,
as well as learning and
behavioral issues. In
adolescents and adults,
common signs include a
small penis and testicles,
less facial and body hair, and
larger breasts. Many
individuals with Klinefelter
syndrome are unaware they
have it and may not have
received treatment.
Testosterone therapy,
typically started at puberty,
can help address many of
these features.
Mijaro, Mikaela Alexandra T. BSN 1-2

Marfan Syndrome
Marfan syndrome is a genetic
condition that causes a loss
of elastic tissue, affecting
both males and females,
typically inherited from a
parent with the condition.
People with Marfan
syndrome have a life
expectancy similar to the
general population. While
there is no cure, treatments
are available to help prevent
complications.

Neurofibromatosi
s Neurofibromatosis is a
genetic condition
characterized by the growth
of benign tumors. There are
three types: type 1, type 2,
and schwannomatosis. It is
typically diagnosed in
childhood. While
neurofibromatosis is not
curable, many individuals
with the condition lead
normal lives.

Noonan syndrome
Noonan syndrome is a rare
genetic condition present
from birth. Young children
with Noonan syndrome may
have distinct facial features,
such as drooping eyelids, a
flat nose bridge, and low
ears. The condition can also
cause heart, digestive, and
other health problems.
Diagnosis is typically made
Mijaro, Mikaela Alexandra T. BSN 1-2

through a blood test.

Treatment focuses on
managing symptoms and
health complications.

Prader-Willi
Syndrome (PWS) Prader-Willi syndrome (PWS)
is a rare genetic condition
that can be diagnosed
through genetic testing.
Although there is no cure,
early treatment can help
manage symptoms.

Rett Syndrome
Rett syndrome is a rare
genetic disorder caused by a
mutation in a gene on the X
chromosome, primarily
affecting girls. It usually
results from a random
genetic mutation rather than
being inherited. The disorder
impacts the nervous system,
leading to intellectual and
physical disabilities.
Symptoms typically begin
between 6 and 18 months
and can progress rapidly
between 1 and 4 years old.
Symptoms include loss of
hand skills, language ability,
coordination, and repetitive
hand movements. While
there is no cure, early
treatment and therapies can
help manage symptoms.
Mijaro, Mikaela Alexandra T. BSN 1-2

Tay-Sachs
Disease Tay-Sachs disease is a
genetic disorder caused by a
deficiency in an enzyme
needed for proper brain
function. Children with
Tay-Sachs are born healthy
but begin showing symptoms
around 6 months, including
loss of milestones like smiling
and crawling, blindness,
paralysis, low muscle tone,
and seizures. There are three
main types: infantile (the
most common), juvenile, and
late-onset. Tay-Sachs is
more prevalent in certain
ethnic groups, and genetic
screening is available for
these populations. Currently,
there is no cure or effective
treatment for Tay-Sachs
disease.

Thalassaemia
Thalassemia is an inherited
genetic disorder that affects
the blood, causing lifelong
anemia. It results from the
body not producing enough
healthy hemoglobin, which is
responsible for carrying
oxygen. There are various
genetic mutations that cause
thalassemia, and symptoms
depend on the specific
mutation. The condition is
diagnosed through blood
tests and genetic testing.
With regular treatment,
people with thalassemia can
typically lead a relatively
normal life.
Mijaro, Mikaela Alexandra T. BSN 1-2

Tourette
Syndrome Tourette syndrome is an
inherited neurological
disorder that causes
involuntary and
uncontrollable vocal sounds
and movements, known as
tics. It typically begins
between the ages of 2 and
21. People with movement
tics may experience head
jerking, neck stretching, foot
stamping, and twisting, while
vocal tics can include throat
clearing, coughing, grunting,
and even shouting. Although
there is no cure for Tourette
syndrome, medication can
help improve symptoms.

Turner Syndrome
Turner syndrome is a genetic
disorder that affects some
females, caused by the
partial or complete absence
of one of the X
chromosomes. This condition
can lead to issues with
hearing, vision, fertility, and
growth, but usually does not
affect intellectual ability.
Treatment with hormones
can help manage certain
symptoms. Turner syndrome
affects about 1 in 2,500
females and does not affect
those assigned male at birth.
Mijaro, Mikaela Alexandra T. BSN 1-2

Von Willebrand
Disease Von Willebrand disease is the
most common inherited
genetic bleeding disorder. It
causes the blood to take
longer to clot, leading to
prolonged bleeding.
Symptoms can include easy
bruising, heavy or prolonged
menstrual periods, and
excessive bleeding after cuts,
injuries, medical procedures,
or childbirth. Diagnosis is
made through specialized
blood tests conducted by a
specialist. Treatment
depends on the type and
severity of the disease,
ranging from no treatment to
medications, hormones, or
wound care.

Williams Williams syndrome is a rare

Syndrome genetic condition present
from birth. Individuals with
Williams syndrome often
share similar facial features
and experience
developmental delays, along
with health problems later in
life. Diagnosis is made
through a blood test. While
there is no cure, treatment
focuses on managing
symptoms and health
complications.
Mijaro, Mikaela Alexandra T. BSN 1-2

Biological Factors Affecting Health

1. Role of Biological Systems

Biological systems, including the immune, nervous, and endocrine systems, play a
crucial role in maintaining health. The immune system defends against pathogens and helps
regulate inflammatory responses, critical for preventing infections and chronic diseases. The
nervous system governs both voluntary and involuntary actions, influencing functions such as
heart rate, digestion, and stress response. Meanwhile, the endocrine system controls hormone
secretion, which impacts metabolism, growth, and mood regulation. Disruptions in these
systems can lead to significant health challenges, such as autoimmune disorders, neurological
diseases, and hormonal imbalances.

2. Biological Factors Beyond Genetics

While genetics strongly influence health, biological factors such as sex, environmental
influences, and hormonal changes also play critical roles. Prenatal conditions, nutrition, and
exposure to toxins profoundly impact long-term health outcomes.

For example, malnutrition during early development increases susceptibility to chronic

diseases later in life. Hormonal changes, such as those occurring during puberty or menopause,
further affect physical and emotional well-being. Imbalances in hormones like thyroid hormones
can result in metabolic disorders, highlighting the interplay between biology and environment in
shaping health.

3. Age and Biological Development

Age-related biological changes significantly influence health. Cellular degeneration, a

hallmark of aging, contributes to the development of age-associated conditions such as
osteoporosis, Alzheimer’s disease, and arthritis. The progressive loss of cellular repair
mechanisms makes older individuals more vulnerable to chronic diseases and infections. These
changes emphasize the need for targeted interventions to manage the health challenges of
aging populations.
Mijaro, Mikaela Alexandra T. BSN 1-2

Reference:
Hernandez, L. M., & Blazer, D. G. (2006). Genetics and Health. Genes, Behavior, and the Social

Environment - NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK DZ19932/

Kyruus Health & By Kyruus Health. (2024, March 9). Biological and physical determinants of health.

Kyruus Health.

https://kyruushealth.com/biological-and-physical-determinants-of-health/#:~:text=The%20three%

20primary%20biological%20determinants,some%20mental%20or%20psychological%20characte

ristics.

Healthdirect Australia. (n.d.). Genetic disorders. Healthdirect.

https://www.healthdirect.gov.au/genetic-disorders

Fridovich, I., Robinson, A., & Fridovich-Keil, J. L. (2024, October 28). Human genetic disease |

Definition, Types, & Facts. Encyclopedia Britannica.

https://www.britannica.com/science/human-genetic-disease