Autopsy on a stillborn fetus reveals cardiomegaly, hepatomegaly, edema, and ascites as well as fulminant intrauterine congestive heart failure. Considering these findings, what is the most likely cause of death? a. Alpha thalassemia minor

b. Alpha thalassemia major

c. Hemoglobin H disease

d. Alpha trait

B) Alpha thalassemia major.

Explanation:

Haemoglobin is the molecule which enables the red blood cells to transport oxygen from the lungs to the body cells.

Thalassemia is an inherited hematological disorder that results in insufficient amount of haemoglobin produced in the body.

Alpha thalassemia major is caused by the inheritance of mutated genes responsible for making haemoglobin. The inheritance of four mutated genes leads to severe and fatal cases of the disease in fetuses and neonates and usually results in stillbirth and a condition known as hydrops fetalis.

Hydrops fetalis is characterized by generalized body swelling, fluid filling up the lung and heart cavities, heart failure, intrauterine anemia, enlarged spleen and liver and also, hydrocephaly.

b. Alpha Thalassemia Major (ATM)

Explanation:

This is the cause of the death. ATM is an inherited disorder of the heamoglobin which occurs as a result of mutation in chromosome 16 where gene that codes for alpha and beta chains of haemoglobin structure is located. it is major because all the 4-alpha globulin genes were missing, therefore none alpha chains in haemoglobin is present to bind oxygen.

Consequently, the oxygen binding capacity of the haemoglobin is lost, The solute potential of the RBC drops, with water moving from the plasma into the RBC, leading to hydrops fetalis (edema).

In mature non-functioning RBC are produced leading to anaemia. Due to rapid removal of in-matured RBC, by the spleen and the liver, enlargements of these organs occurs.

Accumulation of excess iron from blood transfusion together with severe anaemia added more load on the spleen, heart, liver which may lead to failure of these organs.

Most fetus with this condition are stillborn, although intrauterine transfusions is mostly use to maintain their survival.