Search engine for discovering works of Art, research articles, and books related to Art and Culture
ShareThis
Javascript must be enabled to continue!

Complications of Delayed Diagnosis and Challenges: Hereditary Spherocytosis with Hepatocellular Jaundice, a Case Report from Ethiopia

View through CrossRef
Abstract Hereditary spherocytosis is a rare genetic disorder of the RBC membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life. Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient who had repeated medical visits for episodic jaundice, where the delay in diagnosis led to several complications.
Title: Complications of Delayed Diagnosis and Challenges: Hereditary Spherocytosis with Hepatocellular Jaundice, a Case Report from Ethiopia
Description:
Abstract Hereditary spherocytosis is a rare genetic disorder of the RBC membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life.
Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient who had repeated medical visits for episodic jaundice, where the delay in diagnosis led to several complications.

Related Results

Hydatid Disease of The Brain Parenchyma: A Systematic Review
Hydatid Disease of The Brain Parenchyma: A Systematic Review
Abstarct Introduction Isolated brain hydatid disease (BHD) is an extremely rare form of echinococcosis. A prompt and timely diagnosis is a crucial step in disease management. This ...
Breast Carcinoma within Fibroadenoma: A Systematic Review
Breast Carcinoma within Fibroadenoma: A Systematic Review
Abstract Introduction Fibroadenoma is the most common benign breast lesion; however, it carries a potential risk of malignant transformation. This systematic review provides an ove...
Chest Wall Hydatid Cysts: A Systematic Review
Chest Wall Hydatid Cysts: A Systematic Review
Abstract Introduction Given the rarity of chest wall hydatid disease, information on this condition is primarily drawn from case reports. Hence, this study systematically reviews t...
Hydatid Cyst of The Orbit: A Systematic Review with Meta-Data
Hydatid Cyst of The Orbit: A Systematic Review with Meta-Data
Abstarct Introduction Orbital hydatid cysts (HCs) constitute less than 1% of all cases of hydatidosis, yet their occurrence is often linked to severe visual complications. This stu...
Pregnancy Complicated by Hereditary Spherocytosis
Pregnancy Complicated by Hereditary Spherocytosis
Heriditary spherocytosis is an autosomal dominant congenital haemolytic anaemia due to abnormalities in cytoskeleton of red blood cell membrane. The management of pregnancy in a pa...
Thyroid Hemiagenesis: A Single-Center Case Series
Thyroid Hemiagenesis: A Single-Center Case Series
Abstract Introduction: Thyroid hemiagenesis (TH) is a rare congenital anomaly characterized by the complete absence of one thyroid lobe, with or without absence of the isthmus. Its...
Complex Collision Tumors: A Systematic Review
Complex Collision Tumors: A Systematic Review
Abstract Introduction: A collision tumor consists of two distinct neoplastic components located within the same organ, separated by stromal tissue, without histological intermixing...

Back to Top