Sickle cell
title: Sickle Cell Disease tags: #FFICM notebook: 🌑-FFICM type: inprogress
source: bmj-on-examination
| Flashcard | type:basic |
|---|---|
| What is the structural change in haemoglobin that results in sickle cell disease? | The beta chain, at position 6, gets glutamic acid swapped out for valine |
| In sickle cell disease, what does HbAS mean? | You have heterozygous disease (you are a carrier) |
| In sickle cell disease, what does HbSS mean? | You have homozygous disease (you have sickle cell) |
| In sickle cell disease, what does HbSC mean? | You have mild disease, sickle cell plus another haemoglobinopathy |
| In sickle cell disease, what is the short code for haemoglobin meaning you have proper sickle cell disease? | HbSS |
| In sickle cell disease, what is the short code for haemoglobin meaning you have sickle cell trait? | HbAS |
| In sickle cell disease, what is the short code for haemoglobin meaning you have mild sickle cell disease (plus haemoglobin C)? | HbSC |
| In sickle cell disease, what triggers the erythrocyte to "sickle"? | Low PO2 makes abnormal haemoglobin polymerise |
| In sickle cell disease, how low does your PO2 need to be to cause sickling, if you have the HbSS form? | 5-6kPa |
| In sickle cell disease, how low does your PO2 need to be to cause sickling, if you have the HbAS form? | 2.5-4kPa |
| In sickle cell disease, how low does your PO2 need to be to cause sickling, if you have the HbSC form? | Around 4kPa |
| Does the sickledex test in sickle cell disease tell you if you have sickle cell or sicle trait? | No, it just detects presence of HbS |
| What is the name of the test that detects if you have sickle cell trait or sickle cell disease? | Haemoglobin electrophoresis |