This document presents a case study of a rare Rhnull blood type phenotype found in siblings. Rhnull phenotype is characterized by red blood cells that lack all Rh antigens and occurs in approximately 1 in 6 million people. The siblings were discovered to have the Rhnull phenotype during antibody screening and identification work. People with Rhnull phenotype can develop alloantibodies when exposed to Rh antigens and typically have varying degrees of persistent hemolytic anemia. The case study involved diagnostic testing, clinical assessments, genetic analysis and treatment of the siblings in line with managing their rare blood disorder.

1. Case study of RH null Phenotype:Golden Blood Syndrome
GEN BIO
Presnted to Ma'am :Anchelie M. Refran
Bayugan National Comprehensive High School: Science, Technology,Engineering, and Mathematics
Xheen Gian D. Tamba
Anchelie M. Refran
General Biology Adviser
TABLE OF CONTENTS

2. TABLE OF CONTENTS. 2
Abstract 3
Introduction. 3
Material & Methods. 4-5
Results & Discussion 6
Recommendation. 6
Reference. 7

3. Abstract
Rhnull phenotype is an uncommon blood type that is transmitted by an autosomal
recessive manner, with a frequency of about 1 in 6 million people. It can be identified by the
red blood cells expressing just some Rh antigens (Rhmod) or none at all (Rhnull). The clinical
significance of its assessment is that such Rhnull syndrome patients have varied degrees of
persistent hemolytic anemia. We present here a rare Rhnull phenotype in a sibling that was
discovered during the challenging sample work-up for red cell antibody screening and
identification. Such people easily develop alloantibodies when exposed to Rh antigens.
Introduction
The Rh-deficiency syndrome is a rare genetic condition of red blood cells (RBCs) that affects
1 in 6 million people on average and is typically passed down through consanguineous ancestry 1, 2. The
absence of all Rh antigens on RBCs is the defining feature of the Rhnull phenotype. Patients who are
Rhnull have mild to moderate hemolytic anemia, aberrant plasma membranes 3-6, and morphological
changes in their RBCs (stomatocytosis). The same clinical condition is the consequence, which includes
stomatocytosis, spherocytosis, increased osmotic fragility, changed phospholipid asymmetry, altered
cell volume, faulty cation fluxes, and elevation in Na+/K+ ATPase activity 2.

4. Methods and Material
A case study on Rh null disorder would typically involve a comprehensive examination of a
patient or a group of patients with this rare blood disorder. Here are the key components of the
methods and materials section for such a case study:
Patient Information:
Start by providing essential demographic information about the patient(s) involved, such as
age, gender, and any relevant medical history.
Informed Consent:
Mention that informed consent was obtained from the patient(s) or their legal guardians for
participation in the case study.
Diagnostic Criteria:
Describe the diagnostic criteria used to identify Rh null disorder in the patient(s), including
laboratory tests, genetic analysis, and clinical evaluations.
Clinical Assessment:
Detail the clinical assessments conducted, including physical examinations, medical history
reviews, and any symptoms or complications associated with Rh null disorder.
Laboratory Tests:
Specify the laboratory tests performed, such as blood typing, hemoglobin electrophoresis,
and any other relevant tests used to diagnose and characterize Rh null disorder.
Genetic Analysis:
If applicable, describe the genetic analysis methods used to identify specific mutations or
genetic variations associated with Rh null disorder.
Imaging Studies:
Mention any imaging studies (e.g., X-rays, MRI scans) that were conducted to assess any
associated complications or abnormalities.
Treatment History:
Provide a summary of the patient's treatment history, including any blood transfusions,
medications, or other interventions aimed at managing Rh null disorder.

5. Follow-up Data:
Include information about the patient's progress, response to treatment, and any long-term
outcomes or complications observed during the follow-up period.
Ethical Considerations:
Discuss any ethical considerations, such as patient privacy, confidentiality, and compliance with
ethical guidelines during the study.
Materials Used:
List any specific medical equipment, laboratory tools, or software used during the study,
including their manufacturers and relevant details.
Data Analysis:
Briefly describe any statistical or analytical methods used to analyze the collected data, if
applicable.
References:
Cite relevant scientific literature and resources that guided the diagnostic and treatment
decisions in the case study.

6. Results and Discussion
Vos 7 originally identified the Rh-deficiency syndrome in 1961 after discovering that a blood
sample entirely failed to respond with different Rh antisera. However, R. Ceppellini 8 introduced the
concept of "Rhnull" for the first time. As of this writing, at least 43 individuals from 14 families have
been identified as having the Rhnull phenotype 9 in the literature. A few Rhnull people were identified
because their serum had Rh antibodies, whereas others were discovered using standard red cell Rh
phenotyping. Interestingly, three cases were found when the patients were examined for hemolytic
anemia, aberrant red cell morphology, and the proper blood group for blood transfusion 10.It is clear
from this report that the clinical, hematological, and biological characteristics of this rare condition
indicate that it affects the membrane integrity of red blood cells and is linked to spherocytic hemolytic
anemia, stomatocytosis, and enhanced osmotic fragility of red cells 9. Due to congenital spherocytosis
anemia, the male patient in the recent study had splenectomy. Additional genetic research is required
to characterize the underlying mutation's effect on the regulator or amorphous type.Blood transfusion
facilities may have trouble finding appropriate blood for patients who have developed the relevant
alloantibody but whose red blood cells lack high-incidence antigens. A written procedure detailing the
steps to be taken in response to a request for unusual blood should be in place at a hospital blood bank.
In this situation, donating blood for a patient whose antibodies interacted with RBCs of all available ABO
compatible units is vital to save the patient's life. prompt thinking, good clinical judgment, and a prompt
response are also important.
Recommendation
The Rh null blood type, also known as Rhnull, is an extremely rare blood type characterized by
the absence of all Rh antigens on the surface of red blood cells. Due to its rarity, there are limited case
studies available.

7. Reference
Race RR, Sanger R, Fisher R. Blood groups in man. Oxford: Blackwell Scientific; 1968. [Google Scholar]
Avent ND, Reid ME. The Rh blood group system: a review. Blood. 2000;95(2):375–87. [PubMed] [Google Scholar]
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